Androgen Receptor Gene Mutations Database

ANDROGEN RECEPTOR GENE MUTATIONS DATABASE
Curator: Dr. Bruce Gottlieb Telephone:514-340-8260 Date of this version:1 April 2013
Lady Davis Institute for FAX: 514-340-8716
Medical Research E-Mail: bruce.
3755 Cote Ste Catherine gottlieb@mcgill.ca
Rd, Montreal, Quebec Internet: http:/ / www.
H3T 1E2, Canada androgendb.mcgill.ca
Pathogenicity
Accession # proven CpG Position Change Exon 1 tracts Androgen Binding
Mutation Exon hot Amino acidHGVS nt Amino acid Poly Poly Thermolabile Sex of External Family
Phenotype type Domain spot Base HGVS base Base Gln # Gly # Bmax Kd k Comments rearing Genitalia history Reference
0312 Prostate Substitut. 5'UTR +2 pos from Male Normal Crociotto et al. J Urol
cancer transcription initiation 158: 1599-1601, 1997
site AR-TIS II (G>T)
1051 Breast Substitut. 5'UTR -1101 Mutation present in Female Normal Peter et al. BMC
Cancer primary breast tumors Cancer 12:132, 2012
105 -1101T 105T >A
from 2 patients
0313 Prostate Substitut. 5'UTR -913 +214 pos from Male Normal Crociotto et al. J Urol
cancer transcription initiation 158: 1599-1601, 1997
203 -913C 203C >A
site AR-TIS II
0754 PAIS Substitut. 1 * 002 4 p.(Glu2 Lys) high 20-50% reduction in Male Ambiguous pos Choong et al. J Clin
Nterm mutant protein Invest. 98: 1423-1431,
1119 c.4G 1119G >A
1996
0960 CAIS Substitut. 1 * 002 4 p.(Glu2 Lys) 27 13 low high Mother heterozygous Female Normal pos Audi et al. J Clin
Nterm carrier Endocrinol Metab 95:
1119 c.4G 1119G >A
1876-1888, 2010
1059 CAIS Substitut. 1 005 14 p.(Leu5 *) Female Normal Hughes et al. Semin
Nterm Reprod Med 30: 432
1129 c.14T 1129T
-442, 2012
0751 CAIS Deletion 1 007 19 p.(Leu7 fs) Elevated testosterone Female Normal neg Barbaro et al. Clin
Nterm stop in codon 33 No Endocrinol 66: 822
1134 c.19 1134 del C
WD development -826, 2007
0963 CAIS Duplicat. 1 015 39 p.(Pro15 fs) 20 9 4 nt duplication Female Normal pos Audi et al. J Clin
Nterm 1154_1157 dupGC
(GCCG) causing fs Endocrinol Metab 95:
1154 c.39_42
CG and stop in codon 84 1876-1888, 2010
1060 CAIS Substitut. 1 020 58 p.(Arg20 *) Hughes et al. Semin
1173 c.58 1173C >T
-442, 2012
1061 CAIS Substitut. 1 024 70 p.(Gln24 * Female Normal Hughes et al. Semin
1185 c.70 1185C >T
-442, 2012
0624 CAIS Deletion 1 039 115 p.(Pro39 del) In frame deletion of 3 Jung et al. Human
Nterm 1230_1232 del
nt removing proline Genetics 114: 222,
1230 c.115_117
CCC 2004
0836 CAIS Deletion 1 040 118 p.(Arg40 fs) 1 nt del causing Female Normal pos Decaestecker et al.
Nterm framshift & stop in Fertility & Sterility 89:
1233 c.118 1233 delA
codon 174 1260 e3-7, 2008
0002 CAIS Deletion 1 042 125 p.(Pro42 fs) zero 1 nt del causing Female Normal pos Boehmer et al. J Clin
Nterm frameshift & stop in Endocrinol Metab 86:
1240 c.125 1240 delC
Codon 174 1 aff sib 4151-4160, 2001
0910 Prostate Substitut. 1 043 128 p.(Glu43 Gly) Treated with Male Normal Steinkamp et al. Cancer
cancer Nterm Flutamide -occurred Res 69: 4434-4442,
1243 c.128A 1243A >G
in two cases 2009
0003 Prostate Substitut. 1 054 161 p.(Leu54 Ser) Also Phe892Leu Male Normal Tilley et al. Clinical
cancer Nterm 3789T>C mut. Cancer Res. 2: 277-
1276 c.161T 1276T >C
Somatic mutation 285, 1996
0897 CAIS Insertion 1 055 163 p.(Leu55 fs) Female Normal neg Philibert et al. Fertility
Nterm insC & Sterility 94: 472-476
1278 c.163_164 1278_1279
2010
0808 Liver Substitut. 1 057 170 p.(Leu57 Gln) Somatic mutation Male Normal Yeh et al. Int J Cancer
cancer Nterm 120: 1610-1617, 2007
1285 c.170T 1285T >A
0005 Prostate Substitut. 1 057 170 p.(Leu57 Gln) Somatic mutation Male Normal Tilley et al. Clinical
cancer Nterm Cancer Res. 2: 277-
1285 c.170T 1285T >A
285, 1996
0786 MAIS Duplicat. 1 057 p.(Leu57 dup) Leu duplicated - Male Normal Ferlin et al. Clin
Nterm male inferility Endocrinol 65: 606
-610, 2006
0004 Laryngeal Deletion 1 057 30 nt deletion Male Normal Urushibata et al. 10th.
cancer Nterm Somatic mutation Int. Cong. Endocrinol
Abstr. P3-706, 1996
0815 Testicular Deletion 1 057 169 p.(Leu57 del) 3 nt deletion Male Normal Garolla et al. Encdorine
cancer Nterm delC seminoma Related Cancer 12: 645
1284 c.169_171 1284_1286
TG -655, 2005
1064 PAIS Deletion 1 057 169 p.(Leu57 del) Female Normal Hughes et al. Semin
Nterm 169_171 delC
Reprod Med 30: 432
1284 c.169_171
TG -442, 2012
Pathogenicity
proven CpG Position Change Exon 1 tracts Androgen Binding
Accession # Mutation Exon hot Amino acidHGVS nt Poly Poly
Amino acid Sex of External Family
Thermolabile
Phenotype type Domain spot Base HGVS base Base
Gln # Gly #
Bmax Kd
Comments rearing Genitalia history
Reference
k
0411 Mental Deletion 1 058 8 normal normal 3 affected sibs - CAG Male Normal pos Kooy et al. Am J Med
Retard. Nterm = 8; normal maternal Genet 85: 389-393.
uncle CAG = 23 1999
1062 CAIS Substitut. 1 058 172 p.(Gln58 * Female Normal Hughes et al. Semin
1287 c.172C 1287C >T
-442, 2012
0612 MAIS ? Substitut. 1 058 173 p.(Gln58 Leu) 2 out of 62 patients Male Normal Lund et al. Fertility &
Nterm with male infertility Sterility 79: 1647-148,
1288 c.173A 1288A >T
2003
0006 Kennedy Insertion 1 058-080 > Expansion of Male Normal LaSpada et al. Nature
Syndrome Nterm 40 polyglutamine repeat 352: 77-79, 1991
0007 Prostate Deletion 1 058-080 18 Contraction of poly Male Normal Schoenberg et al.
cancer Nterm Gln repeats (24 to 18) Biochem Biophys Res
Somatic mutation Comm 198: 74-80 1994
0324 Prostate Deletion 1 058-080 22 Deletion of 1polyGln Male Normal Watanabe et al. Jpn J
cancer Nterm repeat (23-22) Clin Oncol 27: 389
Somatic mutation -393, 1997
0325 Prostate Insertion 1 058-080 22 Insertion of 1polyGln Male Normal Watanabe et al. Jpn J
cancer Nterm repeat (21-22) in 2 Clin Oncol 27: 389
diff patients.Som mut -393, 1997
0495 Prostate Deletion 1 058-080 18 Contraction of poly Male Normal Wallin et al. J
cancer Nterm Gln repeats (20 to 18) Pathology
Somatic mutation 189: 559-653, 1999
0692 CAIS Substitut. 1 059 176 p.(Gln59 *) zero Female Normal Holterhus et al. J Mol
Nterm Med (Berl) 83: 1005
1291 c.176C 1291C >T
-1013, 2005
0008 CAIS Substitut. 1 * 060 178 p.(Gln60 *) low normal high Normal upregulation. Female Normal neg Zoppi et al. J Clin Inv
Nterm 19: 1105, 1993
1293 c.178C 1293C >T
0671 CAIS Substitut. 1 * 060 178 p.(Gln60 *) bilateral inguinal Female Normal Bouvattier et al. J Clin
Nterm hernia. Endocrinol Metab 87:
1293 c.178C 1293C >T
29-32, 2002
1063 CAIS Substitut. 1 060 178 p.(Gln60 *) Female Normal Hughes et al. Semin
1293 c.178 1293C >T
-442, 2012
0409 CAIS Duplicat. 1 060 179 p.(Gln60 fs) either 1 nt insert or 2 Female Normal Zhu et al. J Clin
Nterm nt del. - frameshift & Endocrinol Metab 84:
1294 179 1294 dupA
stop in codon 83 1590-1594, 1999
0009 Prostate Substitut. 1 064 188 p.(Gln64 Arg) Also Leu831Pro Male Normal Tilley et al. Clinical
cancer Nterm 3607T>C mut. Cancer Res. 2: 277-
1303 c.188A 1303A >G
0846 CAIS Substitut. 1 067 196 p.(Gln67 *) Diag at 1Mo Bilateral Female Normal Cheikhelard et al. J
Nterm gonadectomy at 18y Urol 180: 1496-1501,
1311 c.196C 1311C >T
2008
0894 CAIS Substitut. 1 070 208 p.(Gln70 *) Female Normal neg Philibert et al. Fertility
Nterm & Sterility 94: 472-476
1323 c.208C 1323C >T
2010
0881 MAIS ? Substitut. 1 070 209 p.(Gln70 Arg) 20, 22 CAGs in blood Male Normal Hose et al. Fertility &
Nterm 21, azoospermia Sertoli Sterility 92: 390e9-e11,
1324 c.209A 1324A >G
23 Cell only Syndrome 2009
0787 PAIS? Substitut. 1 073 217 p.(Gln73 *) Somatic mosiac 2/3 Female Normal Mueller et al. Hum
Nterm mutant to 1/3mutant Genet 119: 681, 2006
1332 c.217C 1332C >T
0895 CAIS Substitut. 1 076 226 p.(Gln76 *) Female Normal pos Philibert et al. Fertility
1341 c.226C 1341C >T
2010
0961 CAIS Substitut. 1 076 226 p(.Gln76 *) 18 Truncated CAG Female Normal neg Audi et al. J Clin
Nterm repeat ? Endocrinol Metab 95:
1341 c.226C 1341C >T
1876-1888, 2010
0902 CAIS Deletion 1 076 227 p.(Gln76 del) Female Normal neg Philibert et al. Fertility
1342 c.227 1342 delA
2010
0807 Liver Substitut. 1 080 240 p.(Gln80 ) somatic mutation? Male Normal Yeh et al. Int J Cancer
cancer Nterm present in tumor and 120: 1610-1617, 2007
1355 c.240A 1355A >G
non-tumor tissue
0962 CAIS Insertion 1 081 240 p.(Glu81 fs) 21 18 1 nt insertion causing Female Normal pos Audi et al. J Clin
Nterm insA frameshift and stop in Endocrinol Metab 95:
1355 c.240_241 1355_1356
codon 83 1876-1888, 2010
0901 CAIS Deletion 1 082 244 p.(Thr82 fs) 5 base deletion Female Normal pos Philibert et al. Fertility
Nterm 1359_1363 delACT
& Sterility 94: 472-476
1359 c.244_248
AG 2010
0965 CAIS Deletion 1 084 p.(Ser83 fs) 20 18 zero zero 10 base deletion Female Normal pos Audi et al. J Clin
codon 171 1876-1888, 2010
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0882 Prostate Deletion 1 086 256 p.(Gln86 del) also p.Q58L,T440P, Male Normal Steinkamp et al. Cancer
Cancer Nterm 1371_1373 delCA
G456S, AR23 splice Res 69: 4434-4442,
1371 c.256_258
G var. flutamide treatmt 2009
0964 CAIS Substitut. 1 086 256 p(.Gln86 *) 20 low high Female Normal pos Audi et al. J Clin
Nterm Endocrinol Metab 95:
1371 c.256C 1371C >T
1876-1888, 2010
0416 CAIS Insertion 1 087 257 p.(Gln87 fs) 25 zero 1 nt insertion causing Female Normal Gottlieb et al. Hum
Nterm 1372_1373 insA
frameshift and stop in Mutat. 14: 527-539,
1372 c.257_258
codon 93 1999
0796 CAIS Substitut. 1 088 262 p.(Gln88 *) zero Female Normal Jaaskelainen et al. Hum
Nterm Mutat 27: 291, 2006
1377 c.262C 1377C >T
0672 CAIS Substitut. 1 090 268 p(.Gln90 *) bilateral inguinal Female Normal Bouvattier et al: J Clin
Nterm hernia Endocrinol Metab 87:
1383 c.268C 1383C >T
29-32, 2002
1065 CAIS Substitut. 1 090 268 p(.Gln90 *) Female Normal Hughes et al. Semin
1383 c.268C 1383C >T
-442, 2012
0806 Liver Substitut. 1 091 270 p.(Gln90 His) Somatic mutation Male Normal Yeh et al. Int J Cancer
cancer Nterm 120: 1610-1617, 2007
1385 c.270G 1385G >T
1386 c.271C 1386C >T
-442, 2012
1067 CAIS Substitut. 1 093 p.(Glu93 *) Female Normal Hughes et al. Semin
1393 1393C >T
-442, 2012
0529 CWR22R Substitut. 1 093 p.(Glu93 Asp) 27 19 AR indep.+p.L57Q Male Normal Chelnski et al. The
Prost. CA Nterm & H875Y mut. + Prostate 47: 66-75,
1395 1395G
Cell line Duplication of exon 3 2001
0805 Liver Substitut. 1 102 302 p.(Arg101 His) somatic mutation ? Male Normal Yeh et al. Int J Cancer
cancer Nterm present in tumor and 120: 1610-1617, 2007
1417 c.302G 1417G >A
non-tumor tissue
0417 CAIS Deletion 1 104 312 p.(Pro104 fs) 12 25 zero 1 nt deletion causing Female Normal neg Gottlieb et al. Hum
Nterm frameshift and stop in Mutat. 14: 527-539,
1427 c.312 1427 delC
codon 174 1999
0898 CAIS Insertion 1 109 325 p.(Val109 fs) Female Normal neg Philibert et al. Fertility
Nterm 1440_1441 insA
& Sterility 94: 472-476
1440 c.325_326
2010
0010 Prostate Substitut. 1 114 342 p.(Gln114 His) Also Trp797* Male Normal Tilley et al. Clinical
cancer Nterm 3506G>A mut. Cancer Res. 2: 277-
1457 c.342G 1457G >T
0418 CAIS Substitut. 1 115 343 p.(Gln115 *) 25 27 Female Normal Gottlieb et al. Hum
Nterm Mutat. 14: 527-539,
1458 c.343C 1458C >T
1999
0802 CAIS Substitut. 1 120 358 p.(Gln120 *) 1 affected sister Female Normal pos Berg et al. J Pediatr
Nterm 150: 434-438, 2007
1473 c.358C 1473C >T
1473 c.358C 1473C >T
-442, 2012
1068 PAIS Substitut. 1 120 358 p.(Gln120 Glu) Hughes et al. Semin
1473 c.358C 1473C >G
-442, 2012
0631 CAIS Substitut. 1 121 362 p.(Ser121 *) 25 gonads located in Female Normal pos Melo et al. J Clin
Nterm inguinal canal. Same Endorinol & Metab 88:
1477 c.362C 1477C >A
family as 0830 3241-3250, 2003
0830 CAIS Substitut. 1 121 362 p.(Ser121 *) gonads located in Female Normal pos Melo et al. Arq Bras
Nterm inguinal canal. Same Endocrinol Metab 49:
1477 c.362C 1477C >A
family as 0631 87-97, 2005
0911 Prostate Substitut. 1 121 363 p.(Ser121 ) Silent mutation. Both Male Normal Steinkamp et al. Cancer
cancer Nterm treated and untreated. Res 69: 4434-4442,
1478 c.363G 1478 >C
Occurred in 2 cases 2009
0417 CAIS Deletion 1 127 381 p.(Pro127 fs) 23 24 zero 1ntdeletion causing Female Normal Gottlieb et al. Hum
Nterm frameshift and stop at Mutat. 14: 527-539,
1496 c.381 1496 delC
codon 174 1999
0011 CAIS Deletion 1 129 387 p.(Arg129 fs) zero 1 nt deletion causing Female Normal neg Batch et al. Hum Mol
Nterm frameshift & stop in Genet
1502 c.387 1502 delA
codon 174 1: 497-503, 1992
0436 CAIS Deletion 1 129 387 p.(Arg129 fs) 1 nt deletion causing Female Normal Ahmed et al. J Clin
1502 c.387 1502 delA
codon 174 658-665, 2000
1058 CAIS Substitut. 1 131 393 p.(Cys131 *) Female Normal Cai et al. J Obstet
Nterm Gynaecol 32:707-708,
1509 c.393 1509C >A
2012
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0012 CAIS Deletion 1 142 Frameshift & deletion Female Normal Hiort et al. Am J Med
Nterm of codons 142-150 Genet. 63: 218-222,
Stop in codon 156 1996
0837 CAIS Substitut. 1 143 427 p.(Lys143 *) Sertoli-Leydig tumor Female Normal Jazabeck et al. Gynecol
Nterm Endocrinol 23: 499
1542 c.427A 1542A >T
-504, 2007
0694 Prostate Substitut. 1 * 144 431 p.(Gly144 Val) 16 normal normal Increased response to Male Normal Chen et al. The Prostate
Cancer Nterm DHT 63: 395-406, 2005
1546 c.431G 1546G >T
0516 CAIS Substitut. 1 155 460 p.(Glu155 *) Female Normal Copelli et al. Asian J
Nterm Androl 1: 73-77, 1999
1575 c.460G 1575G >T
0523 CAIS Substitut. 1 155 460 p.(Glu155 *) Female Normal Gacobini et al. Hum
Nterm Genet. 108. 176, 2001
1575 c.460G 1575G >T
0788 PAIS Substitut. 1 159 475 p.(Ala159 Thr) Mueller et al. Hum
Nterm Genet 119: 681, 2006
1590 c.475G 1590G >A
0627 Prostate Substitut. 1 168 502 p.(Gly168 Ser) Orch + bicalutamitide Male Normal Haapala et al. Lab
Cancer Nterm treatment Gleason 10 Invest. 81: 1647-1651,
1617 c.502G 1617G >A
Somatic mutation 2001
0838 CAIS Deletion 1 168 502 p.(Gly168 fs) 1 nt deletion causing Female Normal Jeske et al. J Pediatr
Nterm frameshift & stop Endocrinol Metab 20:
1617 c.502 1617 delG
893-908, 2007
0013 CAIS Substitut. 1 174 521 p.(Leu174 *) Female Normal Hiort et al. Am J Med
Nterm Genet. 63: 218-222,
1636 c.521T 1636T >G
1996
0316 PAIS Substitut. 1 174 521 p.(Leu174 *) low normal Somatic mosaic mut. Female Ambiguous Holterhus et al. J Clin
Nterm causes partial Endocrinol. 82: 3584-
1636 c.521T 1636T >G
virulization 3589, 1997
0420 CAIS Substitut. 1 174 521 p.(Leu174 *) 26 24 zero Female Normal neg Gottlieb et al. Hum
1636 c.521T 1636T >G
1999
0566 Prostate Substitut. 1 178 534 p.(Ser178 ) Som mut. Estrogen Male Normal Hyytinen et al. Lab
cancer Nterm treated. +p.Leu745 Invest. 82: 1591-1598,
1649 c.534C 1649C >T
3350C>T silent mut 2002
0014 Prostate Substitut. 1 182 545 p.(Lys182 Arg) Somatic mutation Male Normal Tilley et al. Clinical
1660 c.545A 1660A >G
285, 1996
0912 Prostate Substitut. 1 194 580 p.(Leu194 Phe) Treated with anti- Male Normal Steinkamp et al. Cancer
cancer Nterm androgens Occurred Res 69: 4434-4442
1695 c.580C 1695C >T
in 2 cases
0913 Prostate Substitut. 1 194 581 p.(Leu194 Arg) Treated with anti- Male Normal Steinkamp et al. Cancer
cancer Nterm androgens Res 69: 4434-4442
1696 c.581T 1696T >G
0319 CAIS Substitut. 1 196 587 p.(Gln196 Arg) Also 1 nt deletion in Female Normal Komori et al. J
Nterm Codon 598 causing a Obstetrics & Gynocol.
1702 c.587A 17022A >G
stop in codon 623 23: 277-81, 1997
0551 Prostate Substitut. 1 200 599 p.(Glu200 Gly) Treated with Male Normal Taplin et al. 37th
cancer Nterm bicalutamide - meeting ASCO 20:
1714 c.599A 1714A >G
somatic mutation Abstr, 1738 2001
0015 CAIS Duplicat. 1 202 606 p.(Glu204 fs) zero 4 nt insertion causing Female Normal neg Batch et al. Hum Mol
Nterm 1721_1724 dupAT
frameshift Genet 1: 497, 1992
1721 c.606_609
CC
0549 Prostate Substitut. 1 204 612 p.(Glu204 Glu) Treated with Male Normal Taplin et al. 37th
cancer Nterm bicalutamide - silent meeting ASCO 20:
1727 c.612A 1727A >G
mutation- somat. mut. Abstr, 1738 2001
0395 Normal Substitut. 1 207 621 p.(Ser207 Arg) Homosexual Male Normal Macke et al. Am J
Nterm individual Human Genetics 53:
1736 c.621C 1736C >G
844-852, 1993
0437 CAIS Deletion 1 210 619 p.(Arg210 fs) zero Frameshift Female Normal Ahmed et al. J Clin
1734 c.619 1734 delG
658-665, 2000
0376 MAIS Substitut. 1 212 636 p.(Arg212 Arg) Silent mutation Male Normal Wang et al. Clinical
Nterm Genetics 54: 185-192,
1751 c.636G 1751G >A
1998
0328 Normal Substitut. 1 213 639 p.(Glu213 ) Silent mutation - Male Normal Batch et al. Hum Mol
Nterm polymorphism Genet 1: 497, 1992
1754 c.639G 1754G >A
detected in 8% popul.
0329 Normal Substitut. 1 213 639 p.(Glu213 ) Silent mut.polymorph Male Normal Hiort et al. Eur J Pediatr
Nterm -detected in 14% of X 153: 317-321, 1994
1754 c.639G 1754G >A
chromosomes
0330 Normal Substitut. 1 213 639 p.(Glu213 ) Silent mutation Male Normal Lu et al. Clinical
Nterm polymorphism Genetics 49: 323-324.
1754 c.639G 1754G >A
1996
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0377 Normal Substitut. 1 213 639 p.(Glu213 ) Silent mutation Male Normal Wang et al. Clinical
Nterm polymorphism Genetics 54: 185-192,
1754 c.639G 1754G >A
1998
0396 Normal Substitut. 1 213 639 p.(Glu213 ) Silent mut.polymorph Male Normal Macke et al. Am J
Nterm detected in 10% of X Human Genetics 53:
1754 c.639G 1754G >A
chromosomes 844-852, 1993
0378 MAIS Substitut. 1 213 639 p.(Glu213 ) Silent mutation Male Normal Wang et al. Clinical
Nterm polymorphism - 4 Genetics 54: 185-192,
1754 c.639G 1754G >A
patients with 1998
0421 CAIS Substitut. 1 213 639 p.(Glu213 ) 22 24 v low Silent mutation - Female Normal Gottlieb et al. Hum
Nterm negligible level of Mutat. 14: 527-539,
1754 c.639G 1754G >A
mRNA & hAR 1999
0422 CAIS Substitut. 1 213 639 p.(Glu213 ) 21 23 normal normal Silent mutation - Female Normal neg Gottlieb et al. Hum
1754 c.639G 1754G >A
1999
0423 PAIS Substitut. 1 213 639 p.(Glu213 ) 23 24 v low Silent mutation - Male Ambiguous Gottlieb et al. Hum
1754 c.639G 1754G >A
1999
0424 PAIS Substitut. 1 213 639 p.(Glu213 ) 19 24 normal high Silent mutation - Male Ambiguous pos Gottlieb et al. Hum
1754 c.639G 1754G >A
1999
0425 MAIS Substitut. 1 213 639 p.(Glu213 ) 20 16 normal high Silent mutation - Male Normal Gottlieb et al. Hum
1754 c.639G 1754G >A
1999
0705 MAIS Substitut. 1 213 639 p.(Glu213 ) normal Male Ambiguous Deeb et al. Clinical
Nterm Endocrinol 63: 56-62,
1754 c.639G 1754G >A
2005
0756 Prostate Substitut. 1 213 639 p.(Glu213 ) patient lower Gleason Male Normal Sanchez et al. BJU Int
cancer Nterm score than patient -wt 98: 1320-1325, 2006
1754 c.639G 1754G >A
AR- som mutation
1754 c.639G 1754G >A
AR- som mutation
1754 c.639G 1754G >A
AR- som mutation
0914 Prostate Substitut. 1 213 639 p.(Glu213 ) Both treated and Male Normal Steinkamp et al. Cancer
cancer Nterm untreated Occurred in Res 69: 4434-4442,
1754 c.639G 1744G >A
2 cases 2009
1019 Premature Substitut. 1 213 639 p.(Glu213 ) Present in 17.85% of Female Normal Panda et al. Gyncol
ovarian Nterm patients & 15% of Endocrinol 2010
1754 c.639G 1754G >A
failure controls
0701 Normal Substitut. 1 213 639 p.(Glu213 ) Silent mut.polymorph Male Normal Estaban et al. Am J
Nterm 65% Ivory Coast, Hum Biol 17: 690-695,
1754 c.639G 1754G >A
28% N African freqs. 2005
0379 MAIS Substitut. 1 * 216 646 p.(Gly216 Arg) 27 23 normal normal norm severe oligospermia- Male Normal Wang et al. Clinical
Nterm 20% lower Genetics 54: 185-192,
1761 c.646G 1761G >A
transactivation 1998
0707 PAIS Substitut. 1 216 646 p.(Gly216 Arg) normal Female Ambiguous Deeb et al. Clinical
Nterm Endocrinology 63: 56
1761 c.646G 1761G >A
-62, 2005
0708 PAIS Substitut. 1 216 646 p.(Gly216 Arg) normal Male Ambiguous Deeb et al. Clinical
1761 c.646G 1761G >A
-62, 2005
0709 PAIS Substitut. 1 216 646 p.(Gly216 Arg) high Female Ambiguous Deeb et al. Clinical
1761 c.646G 1761G >A
-62, 2005
0380 Normal Substitut. 1 216 646 p.(Gly216 Arg) Male Normal Wang et al. Clinical
Nterm Genetics 54: 185-192,
1761 c.646G 1761G >A
1998
0016 CAIS Duplicat. 1 217 649 p.(Ala217 fs) 1 nt duplication Female Normal neg Hiort et al. Hum Mol
Nterm causing frameshift & Genet
1764 c.649 1764 dupG
stop in Codon 234 3: 1163-1166 1994
0966 CAIS Deletion 1 221 663 p.(Ser221 fs) 18 17 zero zero I nt deletion causing Female Normal neg Audi et al. J Clin
1778 c.663 1778 delC
codon 226 1876-1888, 2010
0695 Prostate Substitut. 1 * 223 667 p.(Asp223 His) 16 normal normal Increased response to Male Normal neg Chen et al. The Prostate
cancer Nterm DHT 63: 395-406, 2005
1782 c.667G 1782G >C
0548 Prostate Substitut. 1 224 670 p.(Asn224 Asp) Treated with Male Normal Taplin et al. 37th
cancer Nterm flutamide also T879A meeting ASCO 20:
1785 c.670A 1785A >G
- somatic mutation Abstr, 1738 2001
0650 CAIS Substitut. 1 225 675 p.(Tyr225 *) Wolffian remnants Female Normal Hannema et al. J Clin
1790 c.675C 1790C >G
5815-5822, 2004
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0917 Prostate Substitut. 1 229 685 p.(Thr229 Ala) Both treated and Male Normal Steinkamp et al. Cancer
cancer Nterm untreated Res 69: 4434-4442,
1800 c.685A 1800A >G
2009
0915 Prostate Indel 1 229 685 p.(Thr229 Cys) Untreated - Occurred Male Normal Steinkamp et al. Cancer
cancer Nterm delins in two cases Res 69: 4434-4442,
1800 c.685_686AC
1800_1810AC TG 2009
0916 Prostate Indel 1 229 685 p.(Thr229 Cys) Both treated and Male Normal Steinkamp et al. Cancer
cancer Nterm delins untreated - Occurred Res 69: 4434-4442,
1800 c.685_686AC
1800_1801AC TG in 2 cases 2009
0885 Prostate Indel 1 229 685 p.(Thr229 Cys) +Gln58Leu, Male Normal Steinkamp et al. Cancer
cancer Nterm delins
Ala253Val, Trp435Leu, Res 69: 4434-4442,
1800 c.685_686AC
Flutamide treated
1800_1801AC TG 2009
0706 PAIS Indel 1 * 233 697 p.(Ser233 Leu) high * Male Normal Deeb et al. Clinical
Nterm delins Endocrinol 63: 56-62,
1812 c.697_698TC
1812_1813TC CT 2005
0531 MAIS Substitut. 1 * 235 705 p.(Asn235 Lys) normal * Azoospermia - Male Normal Giwercman et al. Clin
Nterm transactivation 46% Endocrinol 54: 827
1820 c.715C 1820C >A
of wt -834, 2001
0967 CAIS Insertion 1 241 720 p.(Lys241 *) 21 18 Female Normal neg Audi et al. J Clin
Nterm 1835_1836 insT
Endocrinol Metab 95:
1835 c.720_721
1876-1888, 2010
1030 MAIS Substitut. 1 242 724 p.(Ala242 Ser Azoopsermia Male Normal Goglia et al. Fert Steril
Nterm 96: 1165-1169, 2011
1838 c.721A 1838G >T
1049 PAIS Substitut. 1 244 730 p.Ser244 Pro External Male Ambiguous Hellmann et al. Arch
Nterm Masculisation Scale Dis Child 97:403-409,
1844 c.730T 1844T >C
= 10 2012
0789 PAIS? Substitut. 1 248 743 p.(Gly248 Val) Mueller et al. Hum
Nterm Genet 119: 681, 2006
1858 c.743G 1858G >T
0918 Prostate Substitut. 1 253 758 p.(Ala253 Val) Treated with anti- Male Normal Steinkamp et al. Cancer
Cancer Nterm androgens Occurred Res 69: 4434-4442,
1873 c.758C 1873C >T
in 2 cases 2009
0883 Prostate Substitut. 1 255 763 p.(Glu255 Lys) +L446S, R485C,K610E, Male Normal Steinkamp et al. Cancer
Cancer Nterm R787*, L798P, L874P, Res 69: 4434-4442,
1878 c.763G 1873G >A AR23, Flutamide treated
2009
0350 CAIS Substitut. 1 * 263 788 p.(Leu263 Pro) * Also Gly821Ala mut. Female Normal Tanaka et al. Gynocol
Nterm Extra mutation causes Endocrinol 12: 75-82,
1903 c.788T 1903T >C
greater thermolability 1998
0845 CAIS? Duplicat. 1 265 793 p.(Gly265 fs) Mueller. Hum Genet
Nterm 123: 105, 2008
1908 c.793 1908 dupG
0019 CAIS Deletion 1 266 797 p.(Asp266 fs) zero 1 nt deletion causing Female Normal Bruggenwirth et al. J
Nterm frameshift & stop in Steroid Biochem Mol
1912 c.797 1912 delA
codon 296 Biol 58: 569-575,1996
0017 Prostate Substitut. 1 268 803 p.(Met268 Thr) Also p.Leu575Pro Male Normal Tilley et al. Clinical
cancer Nterm mut. Somatic Cancer Res. 2: 277-
1918 c.803T 1918T >C
mutation 285, 1996
0018 Prostate Substitut. 1 271 811 p.(Pro271 Ser) Somatic mutation Male Normal Tilley et al. Clinical
1926 c.811C 1926C >T
285, 1996
0780 MAIS Substitut. 1 272 814 p.(Leu272 Phe) Male infertility Male Normal Ferlin et al. Clin
1929 c.814C 1929C >T
-610, 2006
0606 CAIS Substitut. 1 289 865 p.(Glu289 *) low normal low expression of WT Female Normal Holterhaus et al.
Nterm AR - Somatic Genome Biology 4:
1980 c.865G 1980G >T
mosaicism R37
0556 Prostate Substitut. 1 298 894 p.(Ser298 Arg) Poor differentiation Male Normal Yu et al. Sheng Wu
cancer Nterm of CaP. Germline Hua Xue 32: 459-462,
2009 c.894C 2009C >A
mutation ? 2000
0874 Prostate Substitut. 1 298 894 p.(Ser298 Arg) normal Transcrip activity Male Normal Li et al. Clin Exp
cancer Nterm activarted by estradiol Pharmacolo Physiol 35:
2009 c.894C 2009C >A
and progesterone 1252-1257, 2008
0816 Testiculac Substitut. 1 299 895 p.(Ala299 Thr) Seminoma Male Normal Garolla et al. Encdorine
r cancer Nterm Related Cancer 12: 645
2010 c.895G 2010G >A
-655, 2005
1052 CAIS Indel 1 312 933 p.(Phe312 fs) 287 deletion + 77 Female Normal pos Cong et al. Gene 500:
Nterm 2048_2335 delins
insertion causing 220-223, 2012
2048 c.933_1219
delins 77 77 frameshit and stop
0550 Prostate Substitut. 1 336 2121 p.(Ser336 Pro) Treated with Male Normal Taplin et al. 37th
cancer Nterm flutamide meeting ASCO 20:
2121 c.1006T 2121T >C
somatic mutation Abstr, 1738 2001
0398 Prostate Substitut. 1 342 1025 p.(Pro342 Leu) Somatic mutation Male Normal Castagnaro et al. Verh.
cancer Nterm Stage 3 tumor Dtsch. Ges. Path. 77:
2140 c.1025C 2140C >T
119-123, 1993
Pathogenicity
Accession # Mutation Exon hot Amino acidHGVS nt Amino acidPoly Poly Sex of External Family
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0779 MAIS Substitut. 1 342 1025 p.(Pro342 Leu) Male infertility Male Normal Ferlin et al. Clin
2140 c.1025C 2140C >T
-610, 2006
0968 CAIS Deletion 1 348 1041 p.(Tyr348 fs) 21 17 2 nt deletion causing Female Normal neg Audi et al. J Clin
Nterm fs & stop in Codon Endocrinol Metab 95:
2156 c.1041_1042 2156_2157 delCT
500 1876-1888, 2010
0903 CAIS Deletion 1 349 1035 p.(Lys349 fs) Female Normal neg Philibert et al. Fertility
2150 c.1035_1036 2150_2151 delins
AG 2010
0903 CAIS Deletion 1 349 1041 p.(Gly349 fs) 22 bp deletion Female Normal pos Philibert et al. Fertility
2156 c.1041_1062 2156_2177 del
2010
0020 CAIS Substitut. 1 355 1063 p.(Glu355 *) 21 23 low low specific binding Female Normal neg Gottlieb et al. Hum
Nterm with MB only-mRNA Mutat. 14: 527-539,
2178 c.1063G 2178G >T
< 20% 1999
0781 MAIS Substitut. 1 355 1063 p.(Glu355 Gln) Male infertility Male Normal Ferlin et al. Clin
2178 c.1063G 2178G >C
-610, 2006
0919 Prostate Substitut. 1 359 1072 p.(Ala358 Thr) Bicalutamide treated Male Normal Steinkamp et al. Cancer
Cancer Nterm Occurred in 2 cases Res 69: 4434-4442,
2187 c.1072G 2187G >A
2009
0920 Prostate Substitut. 1 359 1073 p.(Ala359 Val) Bicalutamide treated Male Normal Steinkamp et al. Cancer
Cancer Nterm Occurred in two cases Res 69: 4434-4442,
2188 c.1073C 2188C >T
2009
0921 Prostate Substitut. 1 362 1085 p.(Arg362 His) Both treated and Male Normal Steinkamp et al. Cancer
2200 c.1085G 2200G >A
two cases 2009
0021 CAIS Substitut. 1 373 1117 p.(Gly373 *) Somatic instability of Female Normal pos Davies et al. Clinical
Nterm polyglycine tract Endocrinology 43: 69
2232 c.1117G 2232G >T
-77, 1995
1003 PAIS Substitut. 1 380 1138 p.(Pro380 Arg) 17 18 Prenatal diagnosis Male Ambiguous neg Audi et al. J Clin
2253 c.1138C 2253C >G
1876-1888, 2010
0899 CAIS Insertion 1 381 1129 p.(Pro380 fs) 11 bp duplication Female Normal pos Philibert et al. Fertility
Nterm (CCTCCGCCGCC) & Sterility 94: 472-476
2244 c.1129_1139 2244_2254 dup
2010
0338 MAIS Substitut. 1 * 392 1174 p.(Pro392 Ser) Oligospermia Male Normal Hiort et al. J Clin
2289 c.1174C 2289C >T
2810-2815, 2000
0504 MAIS Substitut. 1 * 392 1174 p.(Pro392 Ser) Oligospermia Male Normal Hiort et al. J Clin
2289 c.1174C 2289C >T
2810-2815, 2000
0767 MAIS Substitut. 1 392 1174 p.(Pro392 Ser) Male infertility Male Normal Ferlin et al. Clin
2289 c.1174C 2289C >T
-610, 2006
0908 CAIS Substitut. 1 392 1174 p.(Pro392 Ser) zero Female Normal Appari et al. J
Nterm Molecular Med: 87: 623
2289 c.1174C 2289C >T
-632, 2009
0950 PAIS Substitut. 1 392 1174 p.(Pro392 Ser) Micropenis only Male Ambiguous Bhangoo et al. Asian J
Nterm Androl 12: 561-566,
2289 c.1174C 2289C >T
2010
1004 PAIS Substitut. 1 392 1174 p.(Pro392 Ser) 22 19 normal normal Male Ambiguous neg Audi et al. J Clin
2289 c.1174C 2289C >T
1876-1888, 2010
1070 PAIS Substitut. 1 392 1174 p.(Pro392 Ser) Hughes et al. Semin
2289 c.1174C 2289C >T
-442, 2012
0817 Testicular Substitut. 1 392 1174 p.(Pro392 Ser) Seminoma Male Normal Garolla et al. Encdorine
cancer Nterm Related Cancer 12: 645
2289 c.1174C 2289C >T
-655, 2005
0608 Prostate Substitut. 1 392 1175 p.(Pro392 Leu) zero Female Normal Holterhaus et al.
cancer Nterm Genome Biology 4:
2290 c.1175C 2290C >T
R37
0547 Prostate Substitut. 1 392 1175 p.(Pro392 Leu) Flutamide treated Male Normal Taplin et al. Proc Am
cancer Nterm Also Asn757Asp - Soc Clin Oncol 20:
2290 c.1175C 2290C >T
somatic mutation 2001 Abstr. 1738
0022 CAIS Substitut. 1 392 1175 p.(Pro392 Arg) 20 24 zero + p.Glu213 1754G>A Female Normal pos Gottlieb et al. Hum
Nterm & p.Gln445Arg Mutat. 14: 527-539,
2290 c.1175C 2290C >G 2449A>G 1999
0790 CAIS Substitut. 1 395 1185 p.(Tyr395 *) Female Normal Mueller et al. Hum
Nterm Genet 119: 680, 2006
2300 c.1185C 2300C >G
0896 CAIS Substitut. 1 395 1185 p.(Tyr395 *) Female Normal neg Philibert et al. Fertility
2300 c.1185C 2300C >G
2010
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0426 CAIS Substitut. 1 405 1197 p.(Gln405 *) 28 23 zero mRNA < 20% Female Normal Gottlieb et al. Hum
2312 c.1197C 2312C >T
1999
1035 PAIS Substitut. 1 * 407 1203 p.Arg407 Ser Stage 3 PAIS- Male Ambiguous Lagarde et al. J Biol
Nterm coregulator effcts Chem 287:10905-15,
2318 c.1203C 2318 >A
melanoma antig-A11 2012
0689 PAIS Deletion 1 * 411 1231 p(Leu4_1Ser413 del) Del. of 9 nt & codons Male Ambiguous pos Holterhus et al. Exp
Nterm 411-413. Normal twin Clin Endocrin Diabetes
2346 c.1231_1239 2346_2354 del
has same deletion 113: 457-463, 2005
0690 PAIS Substitut. 1 * 413 1238 p.(Ser413 Asn Patient responded to Male Ambiguous Holterhus et al. Exp
Nterm ) testosterone treat at Clin Endocrin Diabetes
2353 c.1238G 2353G >A
12yrs. 113: 457-463, 2005
0922 Prostate Substitut. 1 416 1246 p.(Gly416 Ser) Bicalutamide treated Male Normal Steinkamp et al. Cancer
cancer Nterm Occurred in 2 cases Res 69: 4434-4442,
2361 c.1246G 2361G >A
2009
0923 Prostate Substitut. 1 416 1247 p.(Gly416 Asp Bicalutamide treated Male Normal Steinkamp et al. Cancer
cancer Nterm ) occurred in 2 cases Res 69: 4434-4442,
2362 c.1247G 2362G >A
2009
0691 PAIS Substitut. 1 * 434 1301 p.(Ser434 Phe) Male Ambiguous Holterhus et al. Exp
Nterm Clin Endocrinol
2416 c.1301C 2416C >T
diabetes 113: 457-463,
0889 Prostate Substitut. 1 435 1304 p.(Trp435 Leu) +Q86del, T229C, T440P, Male Normal Steinkamp et al. Cancer
Cancer Nterm T498I, V509L, Q828*, Res 69: 4434-4442,
2419 c.1304G 2419G >T Q868*, Bical treated
2009
0924 Prostate Substitut. 1 435 1304 p.(Trp435 Leu) Male Normal Steinkamp et al. Cancer
Cancer Nterm Res 69: 4434-4442,
2419 c.1304G 2419G >T
2009
0925 Prostate Substitut. 1 435 1305 p.(Trp435 Cys) Both treated and Male Normal Steinkamp et al. Cancer
Cancer Nterm untreated Res 69: 4434-4442,
2420 c.1305G 2420G >C
2009
0926 Prostate Substitut. 1 440 1318 p.(Thr440 Pro) Treated with anti- Male Normal Steinkamp et al. Cancer
Cancer Nterm androgens Occurred Res 69: 4434-4442,
2433 c.1318A 2433A >C
in 2 cases 2009
0890 Prostate Substitut. 1 440 1319 p.(Thr440 Ile) +p.Gln58Leu, Male Normal Steinkamp et al. Cancer
Cancer Nterm Gln86del, Gly457Asp Res 69: 4434-4442,
2434 c.1319C 2434C >T
2009
1024 CAIS Substitut. 1 442 1324 p.(Glu442 *) Female Normal Luo FW et al. Zhongua
Nterm Yi Xue. 28: 176-179,
2439 c.1324G 2439G >T
2011
1027 CAIS Substitut. 1 442 1324 p.(Glu442 *) Female Normal neg Sun et al. Eur J Obstet
Nterm Gynecol. 153: 173-175,
2439 c.1324G 2439G >T
2010
0759 Prostate Substitut. 1 451 1352 p.(Gly451 Asp) patient lower Gleason Sanchez et al. BJU Int
2467 c.1352G 2467G >A
AR- som mutation
0760 Prostate Substitut. 1 453 1358 p.(Gly453 Asp patient lower Gleason Male Normal Sanchez et al. BJU Int
cancer Nterm ) score than patient -wt 98: 1320-1325, 2006
2473 c.1358G 2473G >A
AR- som mutation
0969 CAIS Substitut. 1 455 1363 p.(Gly455 Ser) 22 17 Also p.Tyr571Cys Female Normal pos Audi et al. J Clin
Nterm 2830A>G. Sister & 2 Endocrinol Metab 95:
2478 c.1363G 2478G >A
aunts affected 1876-1888, 2010
0888 Prostate Substitut. 1 456 1366 p.(Gly456 Ser) +p.Gln58Leu, Male Normal Steinkamp et al. Cancer
Cancer Nterm Gln86del, Ala253Val, Res 69: 4434-4442,
2481 c.1366G 2481G >A
Bicalutamide treated 2009
0927 Prostate Substitut. 1 456 1366 p.(Gly456 Ser) Treated with anti- Male Normal Steinkamp et al. Cancer
Cancer Nterm androgens. Occurred Res 69: 4434-4442,
2481 c.1366G 2481G >A
in more than 2 cases 2009
0884 Prostate Substitut. 1 457 1370 p.(Gly457 Asp) +Gln86del, Val716Met, Male Normal Steinkamp et al. Cancer
Cancer Nterm AR23 splice variant Res 69: 4434-4442,
2485 c.1370G 2485G >A Flutamide treated 2009
0928 Prostate Substitut. 1 457 1370 p.(Gly457 Asp) Both treated and Male Normal Steinkamp et al. Cancer
Cancer Nterm untreated. Occurred Res 69: 4434-4442,
2485 c.1370G 2485G >A
in 2 cases 2009
0438 CAIS Deletion 1 463 1389 p.(Gly463 fs) zero 1 nt deletion causing Female Normal Ahmed et al. J Clin
Nterm frameshift Endocrinol Metab 85:
2504 c.1389 2504 delC
658-665, 2000
0410 CAIS Deletion 1 474 1421 p.(Glu474 fs) 24 22 2nt del causing Female Normal Thiele et al. J Clin
Nterm 2536_2537 delA
frameshift & stop in Endocrinol Metab 84:
2536 c.1421_1422
G cod 500- mRNA 50% 1751-1753. 1999
0427 CAIS Deletion 1 474 1421 p.(Glu474 fs) 26 26 zero 2nt del causing Female Normal Gottlieb et al. Hum
frameshift & stop in Mutat. 14: 527-539,
2536 c.1421_1422
G cod 500 -mRNA 50% 1999
0693 CAIS Deletion 1 474 1421 p.(Glu474 fs) 21 28 zero 2nt del causing Female Normal Holterhus et al. J Mol
frameshift & stop in Med (Berl) 83: 1005
2536 c.1421_1422
G cod 500- mRNA 50% -1013, 2005
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0782 MAIS Substitut. 1 * 475 1424 p.(Ala475 Val) male infertility Male Normal Ferlin et al. Clin
2539 c.1424C 2539C >T
-610, 2006
0821 MAIS Substitut. 1 * 475 1424 p.(Ala475 Val) 14 17 male infertility, low T Male Normal Zuccarello et al. Clin
Nterm severe Endocrinol 68: 58-588,
2539 c.1424C 2539C >T
hypospematogenesis 2008
0822 MAIS Substitut. 1 * 475 1424 p.(Ala475 Val) 24 17 male infertility, Male Normal Zuccarello et al. Clin
Nterm normal T Endocrinol 68: 58-588,
2539 c.1424C 2539C >T
2008
0823 MAIS Substitut. 1 * 475 1424 p.(Ala475 Val) 19 17 male infertility, Male Normal Zuccarello et al. Clin
Nterm normal T, left Endocrinol 68: 58-588,
2539 c.1424C 2539C >T
cryptorchidism 2008
0024 CAIS Substitut. 1 481 1443 p.(Tyr481 *) 15 15 zero Normal 110KD AR Female Normal Gottlieb et al. Hum
Nterm produced at 25% of Mutat. 14: 527-539,
2558 c.1443C 2558C >A
normal level 1999
0651 CAIS Substitut. 1 481 1443 p.(Tyr481 *) Woolfian remnants Female Normal Hannema et al. J Clin
Nterm present Endocrinol Metab 89:
2558 c.1443C 2558C >A
5815-5822, 2004
0804 Liver Substitut. 1 481 1443 p.(Tyr481 ) Somatic mutation. Female Normal Yeh et al. Int J Cancer
cancer Nterm Silent mutation 120: 1610-1617, 2007
2558 c.1443C 2558C >T
0929 Prostate Substitut. 1 485 p.(Arg485 Cys) Both treated and Male Normal Steinkamp et al. Cancer
cancer Nterm untreated. Occurred Res 69: 4434-4442,
in 2 cases 2009
0930 Prostate Substitut. 1 485 p.(Arg485 Thr) Both treated and Male Normal Steinkamp et al. Cancer
2 cases 2009
0546 CAIS Deletion 1 488 p.(Gln488 *) 3 affected siblings Female Normal pos Boehmer et al. J Clin
Nterm Variable phenotype Endocrinol Metab 86:
4151-4160, 2001
0439 CAIS Deletion 1 489 p.(Gly489 fs) low 5 nt deletion causing Female Normal Ahmed et al. J Clin
Nterm frameshift Endocrinol Metab 85:
658-665, 2000
0440 CAIS Substitut. 1 492 1474 p.(Gly492 Ser) low low Female Normal Ahmed et al. J Clin
2589 c.1474G 2589G >A
658-665, 2000
0891 Prostate Substitut. 1 498 1493 p.(Thr498 Ile) Also p.Arg485Cys Male Normal Steinkamp et al. Cancer
Cancer Nterm Bicalutamide treated Res 69: 4434-4442,
2608 c.1493C 2608C >T
2009
0931 Prostate Substitut. 1 498 1493 p.(Thr498 Ile) Both treated and not Male Normal Steinkamp et al. Cancer
Cancer Nterm treated Occured in 2 Res 69: 4434-4442,
2608 c.1493C 2608C >T
cases 2009
0932 Prostate Substitut. 1 499 1495 p.(Ala499 Thr) Flutamide treated Male Normal Steinkamp et al. Cancer
2610 c.1495G 2610G >A
2009
0933 Prostate Substitut. 1 499 1496 p.(Ala499 Val) Flutamide treated Male Normal Steinkamp et al. Cancer
2611 c.1496C 2611C >T
2009
0936 Prostate Substitut. 1 500 1500 p.(Pro500 ) Treated with anti- Male Normal Steinkamp et al. Cancer
2615
in more than 2 cases 2009
0025 CAIS Substitut. 1 503 1508 p.(Trp503 *) Female Normal pos Bruggenwirth et al. J
Nterm Steroid Biochem Mol
2623 c.1508G 2623G >A
Biol 58: 569-575, 1996
1071 CAIS Substitut. 1 503 1508 p.(Trp503 *) Female Normal Hughes et al. Semin
2623 c.1508G 2623G >A
-442, 2012
0905 CAIS Indel 1 503 1507 p.(Trp503 fs) Indel between Female Normal neg Philibert et al. Fertility
Nterm c.1507_1512, 22 nt & Sterility 94: 472-476
2622 c.1507_1512 2622_2629 delins
insertion 2010
0783 MAIS Substitut. 1 507 1510 p.(Gly507 Asp Male infertility Male Normal Ferlin et al. Clin
Nterm ) Endocrinol 65: 606
2625 c.1510G 2635G >A
-610, 2006
0886 Prostate Substitut. 1 509 1525 p.(Val509 Leu) Bicalutamide treated Male Normal Steinkamp et al. Cancer
2640 c.1525G 2640G >C
2009
0934 Prostate Substitut. 1 509 1525 p.(Val509 Leu) Flutamide treated Male Normal Steinkamp et al. Cancer
2640 c.1525G 2640G >C
2009
0935 Prostate Substitut. 1 509 1526 p.(Val509 Gly) Treated with anti- Male Normal Steinkamp et al. Cancer
2641 c.1526T 2641T >G
in 2 cases 2009
0339 MAIS Substitut. 1 * 512 1536 p.(Val512 Val) Oligospermia caused Male Normal Hiort et al. 80th US
Nterm by silent mutation Endo Soc Meeting,
2651 c.1536G 2651G >A
Abstr P2-38, 1998
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0876 CAIS Substitut. 1 514 1542 p.(Tyr514 *) Female Normal pos Radpour et al. J of
Nterm Andrology 30: 230-232,
2657 c.1542T 2657T >A
2009
0567 Prostate Substitut. 1 515 1543 p.(Pro515 Ser) Somatic mut. Male Normal Hyytinen et al. Lab
cancer Nterm Orchiectomy + EMP Invest. 82: 1591-1598,
2658 c.1543C 2658C >T
Horm-refractory CaP 2002
0686 Normal Substitut. 1 517 p.(Pro517 Ser) Patient suffered from Normal Yan et al. Psychiatric
Nterm phobia Genet 14: 57-60, 2004
0568 Prostate Substitut. 1 525 1563 p.(Gly525 Ser) Somatic mut. Orchi + Male Normal Hyytinen et al. Lab
cancer Nterm EMP treat. Also Invest. 82: 1591-1598,
2678 c.1563G 2678G >A
Trp527* mutation 2002
0569 Prostate Substitut. 1 525 1574 p.(Gly525 Asp Somatic mut. Male Normal Hyytinen et al. Lab
cancer Nterm ) Orchiectomy + EMP Invest. 82: 1591-1598,
2689 c.1574G 2689G >A
0026 Prostate Substitut. 1 529 1586 p.(Asp529 Gly) Somatic mutation Male Normal Tilley et al. Chemical
2701 c.1586A 2701A >G
285, 1996
900 CAIS Insertion 1 531 1592 p.(Tyr531 fs) GCTA insertion Female Normal Philibert et al. Fertility
2707 c.1592_1593 2707_2708 insGC
TA 2010
0570 Prostate Substitut. 1 534 1600 p.(Pro534 Ser) Somatic mut. Male Normal Hyytinen et al. Lab
cancer Nterm Orchiectomy + EMP Invest. 82: 1591-1598,
2715 c.1600C 2715C >T
horm-refractory CaP 2002
0027 CAIS Substitut. 1 535 1605 p.(Tyr535 *) zero Female Normal neg McPhaul et al. FASEB
Nterm J 5: 2910-15, 1991
2720 c.1605C 2720C >G
1072 CAIS Substitut. 1 535 1605 p.(Tyr535 *) zero Female Normal Hughes et al. Semin
2720 c.1605C 2720C >G
-442, 2012
1106 CAIS Deletion 1 Female Normal Hughes et al. Semin
-442, 2012
0028 CAIS and Deletion 1-8 zero Termini not yet Female Normal neg Trifiro et al. Mol Cell
mental defined Endocrinol 75: 37-47,
retardation 1991
0029 CAIS Deletion 1-8 zero Female Normal pos Quigley et al. J Clin
927-933, 1992
0030 CAIS Deletion 1-8 zero Female Normal pos Hiort et al. Am J Med
Genet. 63: 218-22, 1996
0435 CAIS Deletion 1-8 zero Female Normal Ahmed et al. J Clin
658-665, 2000
0023 CAIS Duplicat. 2 Duplication of 8nt # Female Normal Lumbroso et al. 10th Int
2787-2094 frameshift Cong of Endocrinol,
& stop in Codon 564 Abstr P1-182, 1996
1109 CAIS Deletion 2 Also deletion of Female Normal pos Li et al., Genetics &
DBD surrounding introns - Mol Res 10: 1022
total 6-7000 bp -1031, 2011
0031 CAIS Deletion 2 Female Normal Quigley et al. J Cell
Biochem Suppl 16
Abstr. L323, 1992
0579 CAIS Deletion 2 No immunoreactive Female Normal Avila et al. J Clin
AR Endocrinol Metab 87.
182-188, 2002
0580 CAIS Deletion 2 No immunoreactive Female Normal Avila et al. J Clin
AR Endocrinol Metab 87.
182-188, 2002
0441 CAIS Duplicat. 2 Duplication of exon 2 Female Normal Ahmed et al. J Clin
658-665, 2000
0652 CAIS Duplicat. 2 Duplication of exon 2 Female Normal pos Hannema et al. J Clin
sister of 653 Endocrinol Metab 89:
5815-5822, 2004
0653 CAIS Duplicat. 2 Duplication of exon 2 Female Normal pos Hannema et al. J Clin
sister of 652 Endocrinol Metab 89:
5815-5822, 2004
0970 CAIS Deletion 2 p.(His546 fs) 23 17 17bp del. at 2/3 splice Female Normal pos Audi et al. J Clin
site resulting in fs & Endocrinol Metab 95:
stop in Codon 547 1876-1888, 2010
0032 PAIS Substitut. 2 548 1644 p.(Leu548 Phe) low high Also has p. Male Ambiguous pos Melo et al. J Clin
Trp742Cys 3341G>C Endocrinol Metab 88:
2759 c.1644G 2759G >T
mutation 3241-3250, 2003
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0673 PAIS Substitut. 2 548 1644 p.(Leu548 Phe) Ambiguous Bouvattier et al: J Clin
Endorinol & Metab 87:
2759 c.1644G 2759G >T
29-32, 2002
0768 MAIS Substitut. 2 548 1644 p.(Leu548 Phe) Male infertility Male Normal Ferlin et al. Clin
Endocrinol 65: 606
2759 c.1644G 2759G >T
-610, 2006
0357 Prostate Deletion 2 548 1644 p.(Leu547 fs) Frameshift - somatic Male Normal Takahashi et al. Cancer
cancer mutation Research 55: 1621
2759 c.1644 2759 delG
-1624, 1995
0824 MAIS Substitut. 2 * 548 1644 p.(Leu548 Phe) 19 17 Azoospermia, normal Male Normal Zuccarello et al. Clin
T, left varicocele, Endocrinol 68: 58-588,
2759 c.1644G 2759G >T
Sertoli only syndrom 2008
0825 MAIS Substitut. 2 * 548 1644 p.(Leu548 Phe) 19 18 Male infertility, low Male Normal Zuccarello et al. Clin
T Endocrinol 68: 58-588,
2759 c.1644G 2759G >T
2008
0033 MAIS Substitut. 2 549 1645 p.(Pro549 Ser) Distal hypospadia, Male Near-normal pos Sutherland et al. J of
variable penetrance in male Urology 156: 828-831,
2760 c.1645C 2760C >T
family members 1996
0358 Prostate Deletion 2 555 1665 p.(Pro555 fs) Frameshift - somatic Male Normal Takahashi et al. Cancer
2780 c.1665 2780 delA
-1624, 1995
0359 Prostate Deletion 2 555 1665 p.(Pro555 fs) Frameshift - somatic Male Normal Takahashi et al. Cancer
2780 c.1665 2780 delA
-1624, 1995
0952 Prostate Substitut. 2 559 1675 p.(Thr559 Ser) Germline mutation Male Normal pos Hu et al. Asian J Androl
cancer DBD early onset disease in 12: 336-343, 2010
2790 c.1675A 2790A >T
African-American
0034 CAIS Substitut. 2 * 560 1679 p.(Cys560 Tyr) normal normal Female Normal neg Zoppi et al. Mol
DBD Endocrinol 6: 409, 1992
2794 c.1679G 2794G >A
0797 CAIS Substitut. 2 563 1688 p.(Cys563 Tyr) Female Normal Jaaskelainen et al. Hum
DBD Mutat 27: 291, 2006
2803 c.1688G 2803G >A
0840 CAIS Duplicat. 2 563 1686 p.(563Cys dup) Insertion of CTG Female Normal Jeske et al. J Pediatr
DBD Endocrinol Metab 20:
2801 c.1686_1688 2801_2803 dupC
TG 893-908, 2007
1036 PAIS Substitut. 2 565 1693 p.(Asp565 Asn External Male Ambiguous pos Hellmann et al. Arch
DBD Masculisation Score Dis Child 97:403-409,
2808 c.1693G 2808G >A
= 5, 2012
1037 PAIS Substitut. 2 565 1693 p.(Asp565 Asn External Male Ambiguous pos Hellmann et al. Arch
DBD Masculisation Score Dis Child 97:403-409,
2808 c.1693G 2808G >A
=5 2012
0037 PAIS Substitut. 2 569 1706 p.(Gly569 Val) normal normal Chang et al. 73rd US
DBD Endo Soc Meeting,
2821 c.1706G 2821G >T
Abstr 28, 1991
0036 PAIS Substitut. 2 569 1706 p.(Gly569 Val) normal Severe hypospadia Male Ambiguous Allera et al: J Clin
2821 c.1706G 2821G >T
2697-2699, 1995
0035 PAIS Substitut. 2 569 1705 p.(Gly569 Trp) normal normal Female Normal Lobaccaro et al. Clin
DBD Endocrinol, 40: 297,
2820 c.1705G 2820G >T
1994
0674 PAIS Substitut. 2 569 1705 p.(Gly569 Trp) Bouvattier et al: J Clin
DBD Endorinol & Metab 87:
2820 c.1705G 2820G >T
29-32, 2002
0971 CAIS Substitut. 2 569 1706 p.(Gly569 Glu) 26 18 Female Normal neg Audi et al. J Clin
2821 c.1706G 2821G >A
1876-1888, 2010
0971 CAIS Substitut. 2 569 1706 p.(Gly569 Glu) Female Normal Hughes et al. Semin
DBD Reprod Med 30: 432
2821 c.1706G 2821G >A
-442, 2012
0545 PAIS Substitut. 2 572 1714 p.(Tyr572 His) 21 sibling of 0747 Male Ambiguous pos Boehmer et al. J Clin
2829 c.1714T 2829T >C
4151-4160, 2001
0558 PAIS Substitut. 2 572 1714 p.(Tyr572 His) DHT therapy Male Ambiguous Foresta et al. Am J Med
DBD effective Genet 107: 259-260,
2829 c.1714T 2829T >C
2002
0747 PAIS Substitut. 2 572 1714 p.(Tyr572 His) sibling of 0545 Male Ambiguous pos Boehmer et al. J Clin
2829 c.1714T 2829T >C
4151-4160, 2001
0748 PAIS Substitut. 2 572 1714 p.(Tyr572 His) normal low nephew of 0545 & Male Ambiguous pos Boehmer et al. J Clin
DBD 0747 Endocrinol Metab 86:
2829 c.1714T 2829T >C
4151-4160, 2001
0769 MAIS Substitut. 2 572 1714 p.(Tyr572 His) male infertility Male Normal Ferlin et al. Clin
DBD Endocrinol 65: 606
2829 c.1714T 2829T >C
-610, 2006
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0826 PAIS? Substitut. 2 * 572 1714 p.(Tyr572 His) 19 19 male infertility Male Normal Zuccarello et al. Clin
DBD Endocrinol 68: 58-588,
2829 c.1714T 2829T >C
2008
0032 CAIS Substitut. 2 * 572 1715 p.(Tyr572 Cys) Female Normal Komori et al. Arch
DBD Gynecol & Obstetrics
2830 c.1715A 2830A >G
261: 95-100, 1998
0972 CAIS Substitut. 2 574 1720 p.(Ala574 Pro) 24 18 1 affected sister Female Normal pos Audi et al. J Clin
2835 c.1720G 2835G >C
1876-1888, 2010
0038 CAIS Substitut. 2 574 1721 p.(Ala574 Asp normal Defective DNA Female Normal neg Bruggenwirth et al. J
DBD ) binding & Steroid Biochem Mol
2836 c.1721C 2836C >A
transactivation Biol 58: 569-575, 1996
0489 Prostate Substitut. 2 576 1726 p.(Thr576 Ala) Somatic mutation Male Normal Marcelli et al. Cancer
Cancer DBD Research 60: 944-949,
2841 c.1726A 2841A >G
2000
0810 Prostate Substitut. 2 * 576 1726 p.(Thr576 Ala) Som mut. also T878A Male Normal Monge et al.Cell Mol
Cancer DBD binds to non-AR- Life Sci 63: 487-497,
2841 c.1726A 2841A >G
specific motifs 2006
0040 CAIS Substitut. 2 577 1730 p.(Cys577 Phe) normal normal Female Normal Chang et al. 73rd US
2845 c.1730G 2845G >T
Abstr 28, 1991
0407 CAIS Substitut. 2 577 1730 p.(Cys577 Phe) Lack of DNA binding Female Normal pos Hooper et al. Cinical
DBD -19 members of same Genetics 65: 183-190,
2845 c.1730G 2845G >T
family 3 testis tumors 2004
0039 CAIS Substitut. 2 * 577 1729 p.(Cys577 Arg) normal normal Female Normal pos Zoppi et al. Mol
2844 c.1729T 2844T >C
0554 PAIS Substitut. 2 * 578 1732 p.(Gly578 Arg) normal normal high Alters affinity & Nguyen et al. Mol
DBD selectivity of AR- Endocrinol 15: 1790
2847 c.1732G 2847G >A
ARE interactions -1802, 2001
0509 PAIS Substitut. 2 * 579 1736 p.(Ser579 Thr) normal partial tranactivation Male Ambiguous Giwercman et al.
DBD in COS cells Hormone Research 53:
2851 c.1736G 2851G >C
83-88, 2000
1023 CAIS Substitut. 2 579 1736 p.(Ser579 Asp) Female Normal pos Xiao et al. Chinese Med
DBD J 123: 1473-1476, 2010
2851 c.1736G 2851G >A
0043 CAIS Deletion 2 580 1740 p.(Cys580 fs) zero Single nt deletion Female Normal Imai et al. Annals Clin
DBD causing frameshift & Biochem 32: 482-486,
2855 c.1740 2855 delC
stop in codon 620 1995
0041 CAIS Substitut. 2 580 1739 p.(Cys580 Tyr) Female Normal Sultan et al. J Steroid
DBD Biochem Mol Biol: 46:
2854 c.1739G 2854G >A
519-30, 1993
0042 CAIS Substitut. 2 * 580 1739 p.(Cys580 Phe) normal normal Reduced transcription Female Normal pos Imasaki et al. Mol &
DBD & DNA binding Cell Endocrinol 120: 15
2854 c.1739G 2854G >T
-24, 1996
0973 CAIS Substitut. 2 * 580 1740 p.(Cys580 Trp) 23 17 low low Mother & 1 aunt Female Normal pos Audi et al. J Clin
DBD heterozygous carriers, Endocrinol Metab 95:
2855 c.1740C 2855C >G
1 aunt affected 1876-1888, 2010
0487 Prostate Substitut. 2 581 1742 p.(Lys581 Arg) Somatic mutation Male Normal Marcelli et al. Cancer
2857 c.1742A 2857A >G
2000
0843 PAIS Substitut. 2 581 1742 p.(Lys581 Arg) Attempted sex Female Ambiguous Katsumata et al.
DBD reassignment at 31 Endocr J 55: 225-228,
2857 c.1742A 2857A >G
did not succeed 2008
0044 CAIS Substitut. 2 * 582 1744 p.(Val582 Phe) normal normal Female Normal Lumbroso et al. Fertil
DBD Steril, 60: 814, 1993
2859 c.1744G 2859G >T
0675 CAIS Substitut. 2 * 582 1744 p.(Val582 Phe) bilateral inguinal Female Normal Bouvattier et al. J Clin
DBD hernia Endorinol & Metab 87:
2859 c.1744G 2859G >T
29-32, 2002
0676 CAIS Substitut. 2 * 582 1744 p.(Val582 Phe) bilateral inguinal Female Normal Bouvattier et al. J Clin
DBD hernia Endorinol & Metab 87:
2859 c.1744G 2859G >T
29-32, 2002
1031 CAIS Substitut. 2 * 582 1744 p.(Val582 Phe) Female Normal Hughes et al., The
DBD Lancet 380:1419-1428,
2859 c.1744G 2859G >T
2012
0719 PAIS Substitut. 2 582 1744 p.(Val582 Leu) niece also affected Female Ambiguous pos Ledig et al: Horm Res
DBD 63: 263-269, 2005
2859 c.1744G 2859G >C
1032 PAIS Substitut. 2 * 582 1744 p.(Val582 Leu) Female Ambiguous Hughes et al., The
DBD Lancet 380:1419-1428,
2859 c.1744G 2859G >C
2012
1033 PAIS Substitut. 2 * 582 1745 p.(Val582 Gly) Female Ambiguous Hughes et al., The
DBD Lancet 380:1419-1428,
2860 c.1745T 2860T >G
2012
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0047 PAIS Substitut. 2 583 1748 p.(Phe583 Ser) zero Female Ambiguous Hiort et al. Hum Mol
DBD Genet
2863 c.1748T 2863T >C
3: 1163-1166 1994
0046 PAIS Substitut. 2 583 1748 p.(Phe583 Tyr) normal normal Reduced transcription Female Ambiguous pos Imasaki et al. Mol &
DBD & DNA binding Cell Endocrinol 120: 15
2863 c.1748T 2863T >A
-24, 1996
0045 CAIS Deletion 2 * 584 1750 p.(Phe584 del) 22 23 low normal 3 nt del - p.Phe584del Female Normal neg Beitel et al. Hum Mol
DBD Genet, 3: 21, 1994
2865 c.1750_1752 2865_2867 delT
TC
0442 CAIS Deletion 2 584 1750 p.(Phe584 del) normal normal 3 nt del - p.Phe584del Female Normal Ahmed et al. J Clin
2865 c.1750_1752 2865_2867 delT
TC 658-665, 2000
0597 CAIS Deletion 2 584 1750 p.(Phe584 del) 3 nt del - p.Phe584del Female Normal Scheiber et al. J
DBD Pedatric Endocrinol &
2865 c.1750_1752 2865_2867 delT
TC Metab. 16: 367-373,
0974 CAIS Substitut. 2 584 1752 p.(Phe584 Leu) 29 17 Mother & 2 sisters Female Normal pos Audi et al. J Clin
DBD heterozygous carriers Endocrinol Metab 95:
2867 c.1752C 2867C >G
1 sister & 1 aunt affct 1876-1888, 2010
0048 CAIS Substitut. 2 586 1757 p.(Arg586 Lys) Female Normal Sultan et al. J Steroid
DBD Biochem & Mol Biol:
2872 c.1757G 2872G >A
46
0488 Prostate Substitut. 2 587 1760 p.(Ala587 Val) Somatic mutation Male Normal Marcelli et al. Cancer
2875 c.1760C 2875C >T
2000
0877 CAIS Substitut. 2 * 587 1760 p.(Ala587 Asp) normal Zero transactivation Female Normal pos Rajender et al. Fert
DBD activity Steril 91: 933.e23-28,
2875 c.1760C 2875C >A
2009
0490 Prostate Substitut. 2 588 1762 p.(Ala588 Ser) Somatic mutation Male Normal Marcelli et al. Cancer
2877 c.1762G 2877G >T
2000
0049 CAIS Deletion 2-8 zero Similar 2-8 deletion Female Normal Jakubiczka et al.
in 2 different families Human Mutation 9: 57
-61, 1997
0050 CAIS Deletion 3 * high normal Produces internally Female Normal pos Quigley et al. Mol
DBD deleted protein Endocrinol 6: 1103,
1992
0051 CAIS Deletion 3 Female Normal pos Hiort et al. Am J Med
DBD Genet. 63: 218-22, 1996
0443 CAIS Deletion 3 zero Female Normal Ahmed et al. J Clin

658-665, 2000
0444 CAIS Deletion 3 Female Normal Ahmed et al. J Clin
658-665, 2000
0052 CAIS Substitut. 3 * 591 1771 p.(Lys591 *) zero Female Normal Marcelli et al: Mol
DBD Endocrinol 4: 1105,
2886 c.1771A 2886A >T
1990
0975 CAIS Substitut. 3 594 1782 p.(Tyr594 *) 18 18 Female Normal neg Audi et al. J Clin
2897 c.1782C 2897C >A
1876-1888, 2010
0887 Prostate Substitut. 3 595 1783 p.(Leu595 Met) Q58L,Q86del,Q262*, Male Normal Steinkamp et al. Cancer
Cancer DBD E666D, AR23. Bical Res 69: 4434-4442,
2898 c.1783C 2898C >A
treated 2009
0053 PAIS Substitut. 3 ** 597 1789 p.(Ala597 Thr) normal normal Found in 2 unrelated Male Ambiguous pos Gast et al. Mol & Cell
DBD fam. Abolishes Endocrinol 111: 93-98,
2904 c.1789G 2904G >A
dimerization 1995
0434 PAIS Substitut. 3 * 597 1789 p.(Ala597 Thr) normal normal Somatic mosaicism Male Ambiguous Holterhus et al.
DBD Pediatric Res 46: 684
2904 c.1789G 2904G >A
-690, 1999
0510 PAIS Substitut. 3 ** 597 1789 p.(Ala597 Thr) normal partial transactivation Male Ambiguous Giwercman et al.
DBD in COS cells Hormone Research 53:
2904 c.1789G 2904G >A
83-88, 2000
0710 PAIS Substitut. 3 * 597 1789 p.(Ala597 Thr) high Male Ambiguous Deeb et al. Clinical
DBD Endocrinology 63: 56
2904 c.1789G 2904G >A
-62, 2005
0054 PAIS Substitut. 3 * 598 1792 p.(Ser598 Gly) normal normal High disso rate. Also Female Ambiguous Zoppi et al. Mol
DBD has p.R618P Endocrinol 6: 409-415,
2907 c.1792A 2907A >G
2968G>C mut. 1992
0390 PAIS Substitut. 3 598 1793 p.(Ser598 Thr) Servere hypospadia Male Ambiguous Nordenskjold et al
DBD and cryptorchidism Urological Res. 27: 49
2908 c.1793G 2908G >C
-55, 1999
0609 PAIS Substitut. 3 598 1794 p.(Ser598 Arg) Newborn treated with Male Ambiguous Giwercmann et al.
DBD 1% DHT locally - Horm Res 61: 58-62,
2909 c.1794C 2909C >A
normal penile size 2004
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0610 Normal Substitut. 3 598 1794 p.(Ser598 Arg) Adult had bilateral Male Normal Giwercmann et al.
DBD cryptorchadism in Horm Res 61: 58-62,
2909 c.1794C 2909C >A
childhood 2004
0959 E006AA Substitut. 3 598 1792 p.(Ser598 Gly) Dominant-negative Male Normal D'Antonio et al. PLOS
Prost Can DBD loss of function mut One 5: e11475, 2010
2907 c.1792A 2907A >G
cell line AR gene amplificat
0720 CAIS Deletion 3 600 1799 p.(Asn600 fs) 1 nt deletion causing Female Normal neg Ledig et al: Horm Res
DBD frameshift & stop at 63: 263-269, 2005
2914 c.1799A 2914A delA
codon 625
0055 CAIS Substitut. 3 602 1805 p.(Cys602 Phe) Female Normal pos Baldazzi et al. Hum
DBD Mol Genet
2920 c.1805G 2920G >T
3: 1169-70 1994
0946 PAIS Substitut. 3 * 602 1805 p.(Cys602 Ser) 40% loss of ligand- Female Ambiguous Singh et al. J Steroid
DBD binding & 70% loss Biochem Mol Biol 2010
2920 c.1805G 2920G >C
of transacrivation
1075 CAIS Substitut. 3 * 602 1805 p.(Cys602 Tyr) Female Normal Hughes et al. Semin
2920 c.1805G 2920G >A
-442, 2012
0362 PAIS Substitut. 3 603 1807 p.(Thr603 Pro) 24 testis located in Male Ambiguous pos Melo et al. J Clin
DBD ingunal canal. Same Endorinol & Metab 88:
2922 c.1807A 2922A >C
family as 0831 3241-3250, 2003
0831 PAIS Substitut. 3 603 1807 p.(Thr603 Pro) Same family as 0362 Male Ambiguous pos Melo et al. Arq Bras
2922 c.1807A 2922A >C
87-97, 2005
0942 PAIS Substitut. 3 604 1811 p.(Ile604 Asn zero Somatic mosaicism - Elfferich et al. Sexual
DBD ) no transcriptional Development 3: 237
2926 c.1811T 2926T >A
activity -244, 2009
1034 CAIS Substitut. 3 604 1811 p.(Ile604 Ser) Twins Male Normal Hughes et al., The
DBD Lancet 380:1419-1428,
2926 c.1811T 2926T >G
2012
0056 PAIS Substitut. 3 605 1813 p.(Asp605 Tyr) Male Ambiguous Hiort et al: Hum Mol
DBD Genet 3: 1163-1166
2928 c.1813G 2928G >T
1994
0598 PAIS Substitut. 3 605 1813 p.(Asp605 Tyr) Female Ambiguous pos Scheiber et al. J Ped
DBD Endocrinol & Metab.
2928 c.1813G 2928G >T
16: 367-373, 2003
1074 PAIS Substitut. 3 605 1813 p.(Asp605 Asn Hughes et al. Semin
2928 c.1813G 2928G >A
-442, 2012
0848 CAIS Substitut. 3 * 608 1822 p.(Arg608 *) Diag at 1 Mo- Female Normal pos Cheikhelard et al. J
DBD Wolffian derivatives Urol 180: 1496-1501,
2937 c.1822C 2937C >T
on rt side only 2008
0057 CAIS Substitut. 3 * 608 1822 p.(Arg608 *) zero Female Normal Brown et al. Eur J
DBD Pediatr (Suppl 2)
2937 c.1822C 2937C >T
152. S62, 1993
0511 CAIS Substitut. 3 * 608 1822 p.(Arg608 *) zero Female Normal Giwercman et al.
DBD Hormone Research 53:
2937 c.1822C 2937C >T
83-88, 2000
0702 CAIS Substitut. 3 * 608 1822 p.(Arg608 *) 1 affected sibling Female Normal pos Boehmer et al. J Clin
2937 c.1822C 2937C >T
4151-4160, 2001
0770 MAIS Substitut. 3 * 608 1823 p.(Arg608 Gln) Male infertility Male Normal Ferlin et al. Clin
2938 c.1823G 2938G >A
-610, 2006
0677 PAIS Substitut. 3 * 608 1823 p.(Arg608 Gln) Ambiguous Bouvattier et al: J Clin
DBD Endorinol & Metab 87:
2938 c.1823G 2938G >A
29-32, 2002
0393 PAIS Substitut. 3 * 608 1823 p.(Arg608 Gln) Germ cell tumour - in Female Normal Chen et al. Human
DBD undescended testis Reproduction 14: 664
2938 c.1823G 2938G >A
-670, 1999
0347 PAIS Substitut. 3 * 608 1823 p.(Arg608 Gln) Patient successfully Male Ambiguous Weidemann et al. J Clin
DBD treated with Endocrinol & Metab
2938 c.1823G 2938G >A
testostertone 83: 1173-1176, 1998
0060 PAIS Substitut. 3 * 608 1823 p.(Arg608 Gln) Female Ambiguous Hiort et al. Am J Med
DBD Genet. 63: 218-222,
2938 c.1823G 2938G >A
1996
0059 PAIS Substitut. 3 ** 608 1823 p.(Arg608 Gln) normal normal Male Ambiguous pos Weidemann et al. Clin
2938 c.1823G 2938G >A
-739, 1996
0058 PAIS and Substitut. 3 * 608 1823 p.(Arg608 Gln) Male Ambiguous pos Wooster et al. Nat
breast DBD Genet 2: 132, 1992
2938 c.1823G 2938G >A
cancer
0847 CAIS Substitut. 3 608 1822 p.(Arg608 *) Diag at 1Mo Bilateral Female Normal pos Cheikhelard et al. J
DBD gonadectomy at 16y Urol 180: 1496-1501,
2937 c.1822C 2937C >T
2008
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0061 PAIS Substitut. 3 609 1826 p.(Arg609 Lys) normal normal Male Ambiguous Saunders et al. Clin
DBD Endocrinol 37: 214,
2941 c.1823G 2941G >A
1992
0062 PAIS and Substitut. 3 609 1826 p.(Arg609 Lys) normal normal Male Ambiguous Lobaccaro et al. Hum
breast DBD Mol Genet, 2: 1799,
2941 c.1823G 2941G >A
cancer 1993
0322 PAIS Substitut. 3 609 1826 p.(Arg609 Lys) normal normal Defective nuclear Male Ambiguous Tincello et al. Clinical
DBD localization Endocrinology 46: 497
2941 c.1823G 2941G >A
-506, 1997
0352 PAIS Substitut. 3 609 1826 p.(Arg609 Lys) Male Ambiguous pos Hiort et al. J Pediatrics
DBD 132: 939- 943, 1998
2941 c.1823G 2941G >A
0481 PAIS Substitut. 3 609 1826 p.(Arg609 Lys) normal high Ahmed et al. J Clin
2941 c.1823G 2941G >A
658-665, 2000
0412 CAIS Deletion 3 609 1825 p.(Arg609 fs) Mullerian ducts pres. Female Normal Chen et al. Fertility &
DBD 2940_2944 delAG 5nt del frameshift & Sterility 72: 170-173,
2940 c.1825_1829
GAA stop in codon 621 1999
0956 PAIS Substitut. 3 609 1826 p.(Arg609 Lys) Male Ambiguous neg Wu et al. Fertility &
DBD Sterility 93: 2076, e1-4,
2941 c.1826G 2941G >A
2010
0063 PAIS Substitut. 3 * 611 1832 p.(Asn611 Thr) normal low * Male Ambiguous Weidemann et al. Clin
2947 c.1832A 2947A >C
-739, 1996
0721 CAIS Insertion 3 611 1831 p.(Asn611 fs) Female Normal neg Ledig et al. Horm Res
DBD 2946_2947 insA 63: 263-269, 2005
2946 c.1831_1832
0496 CAIS Substitut. 3 612 1835 p.(Cys612 Tyr) Female Normal Mockel et al. Geburtshi.
DBD und Frauen. 60: 232
2950 c.1835G 2950G >A
-234, 2000
0722 CAIS Substitut. 3 615 1835 p.(Cys615 Tyr) Female Normal neg Ledig et al: Horm Res
DBD 63: 263-269, 2005
2959 c.1835G 2959G >A
1076 CAIS Substitut. 3 616 1835 p.(Arg616 Cys) Female Normal Hughes et al. Semin
2961 c.1846C 2961C >T
-442, 2012
0512 CAIS Substitut. 3 * 616 1846 p.(Arg616 Gly) no transactivation in Female Normal Giwercman et al.
DBD COS cells Hormone Research 53:
2961 c.1846C 2961C >G
83-88, 2000
0065 CAIS Substitut. 3 ** 616 1847 p.(Arg616 His) 25 23 low high Female Normal pos Beitel et al. Hum Mol
DBD Genet, 3: 21-27, 1994
2962 c.1847G 2962G >A
0066 CAIS Substitut. 3 ** 616 1847 p.(Arg616 His) normal normal Female Normal pos Mowszowicz et al. Mol
DBD Endocrinol 7: 861-869,
2962 c.1847G 2962G >A
1993
0067 CAIS Substitut. 3 ** 616 1847 p.(Arg616 His) Female Normal Brown et al. Eur J
DBD Pediatr 152 (Suppl 2):
2962 c.1847G 2962G >A
S62, 1993
0068 CAIS Substitut. 3 ** 616 1847 p.(Arg616 His) 2 affected siblings Female Normal pos Boehmer et al. J Clin
DBD variable phenotype Endocrinol Metab 86:
2962 c.1847G 2962G >A
4151-4160, 2001
0348 CAIS Substitut. 3 * 616 1847 p.(Arg616 His) Female Normal Cabral et al. Brazilian J
DBD Mol & Biol Res. 31:
2962 c.1847G 2962G >A
775-778, 1998
0353 CAIS Substitut. 3 * 616 1847 p.(Arg616 His) Female Normal Hiort et al. J Pediatrics
DBD 132: 939- 943, 1998
2962 c.1847G 2962G >A
0354 CAIS Substitut. 3 * 616 1847 p.(Arg616 His) Female Normal Hiort et al. J Pediatrics
DBD 132: 939- 943, 1998
2962 c.1847G 2962G >A
0069 PAIS Substitut. 3 * 616 1847 p.(Arg616 His) Male Ambiguous Hiort et al. Am J Med
DBD Genet. 63: 218-222,
2962 c.1847G 2962G >A
1996
0654 CAIS Substitut. 3 * 616 1847 p.(Arg616 His) Wolffian remnants Female Normal pos Hannema et al. J Clin
DBD present - sister of 655 Endocrinol Metab 89:
2962 c.1847G 2962G >A
5815-5822, 2004
0655 CAIS Substitut. 3 * 616 1847 p.(Arg616 His) Sister of 654 Female Normal pos Hannema et al. J Clin
2962 c.1847G 2962G >A
5815-5822, 2004
0069 MAIS Substitut. 3 * 616 1847 p.(Arg616 His) Male infertility Male Normal Ferlin et al. Clin
2962 c.1847G 2962G >A
-610, 2006
0070 PAIS Substitut. 3 616 1847 p.(Arg616 Pro) Male Ambiguous Hiort et al. Am J Med
DBD Genet. 63: 218-222,
2962 c.1847G 2962G >C
1996
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0445 CAIS Substitut. 3 616 1847 p.(Arg616 Pro) normal high Female Normal Ahmed et al. J Clin
2962 c.1847G 2962G >C
658-665, 2000
0064 CAIS Deletion 3 616 1846 p.(Arg616 del) 27 23 normal normal 3 nt del - p.R616del Female Normal Beitel et al. Hum Mol
DBD Genet, 3: 21-27, 1994
2961 c.1846_1848 2961-2963 delC
GT
1025 CAIS Substitut. 3 616 1846 p.(Arg616 Ser) mother is a Female Normal pos Sharma et al. Fertil
DBD heterozygous carrier Steril 95: 804, e19-21,
2961 c.1846C 2961C >A
2011.
0071 PAIS Substitut. 3 * 617 1850 p.(Leu617 Arg) normal normal Female Ambiguous pos De Bellis et al. J Clin
DBD Endocrinol Metab, 78:
2965 c.1850T 2965T >G
513, 1994
0072 CAIS Substitut. 3 617 1850 p.(Leu617 Pro) Female Normal Mebarki et al. 75th US
2965 c.1850T 2965T >C
Abstr 602,1993
0073 CAIS Substitut. 3 * 617 1850 p.(Leu617 Pro) normal normal Female Normal Lobaccaro et al. Mol
DBD Cell Endorinol, 5: 137
2965 c.1850T 2965T >C
-147, 1996
1110 CAIS Substitut. 3 618 1852 p. (Arg 618 * Persistence of Female Normal Liu et al. J Androl
DBD Wolffian derivatives 33:357-360, 20123
2967 c.1852C 2967C >T
2968 delG
0074 PAIS Substitut. 3 * 618 1853 p.(Arg618 Pro) normal normal Female Ambiguous pos Marcelli et al. J Clin
DBD Invest. 87: 1123, 1991
2968 c.1853G 2968G >C
0075 PAIS Substitut. 3 * 618 1853 p.(Arg618 Pro) normal normal high Mutation also at 598 Female Normal Zoppi et al. Mol
2968 c.1853G 2968G >C
0431 Prostate Substitut. 3 * 620 1859 p.(Cys620 Tyr) low high Inactive transcription Male Normal Nazereth et al. Mol
cancer DBD Does not bind DNA Endocrinol 13: 2065
2974 c.1859G 2974G >A
somatic mutation -2075, 1999
0976 CAIS Substitut. 3 620 1858 p.(Cys620 Arg) 20 18 Mother heterozygous Female Normal pos Audi et al. J Clin
DBD carrier, 1 affected Endocrinol Metab 95:
2973 c.1858T 2973T >C
sister 1876-1888, 2010
0491 Prostate Substitut. 3 620 1859 p.(Cys620 Tyr) Somatic mutation Male Normal Marcelli et al. Cancer
cancer DBD Research 60: 944-949,
2974 c.1859G 2974G >A
2000
0076 CAIS Deletion 3-8 Female Normal Brown et al, Eur J
Pediatr (Suppl 2) 152:
S62, 1993
0711 PAIS Substitut. 4 630 1888 p.(Arg630 Trp) normal 40% higher Male Ambiguous Deeb et al. Clinical
transactivation than Endocrinology 63: 56
3003 c.1888C 3003C >T
WT impaired N/C -62, 2005
0306 Prostate Substitut. 4 630 1889 p.(Arg630 Gln) 1 of 6 of hormone- Male Normal Wang et al. Japanese J
cancer independent D2 of Urology 88: 550-556
3004 c.1889G 3004G >A
patients- somatic mut 1997
0079 Prostate Substitut. 4 631 1892 p.(Lys631 Thr) Also p.K718E Male Normal Tilley et al. Clinical
cancer mut.3267A>G,+ Cancer Res. 2: 277-285,
3007 c.1892A 3007A >C
silent 1996
0077 MAIS Deletion 4 Azoospermia Male Normal neg Aiken et al. Am J Obs
LBD & Gyn . 165: 1891
-1894, 1991
1028 CAIS Deletion 4 637 1910 p.(Asn637 fs) leads to p.Asn637Ile Female Normal pos Yue et al. Zhonghua 27:
LBD & Leu638*. Mother 631-633, 2010
3025 c.1910 3025l delA
heterozygous
0400 CAIS Substitut. 4 641 1921 p.(Gln641 *) zero Female Normal Yaegashi et al. Tohoku
LBD J of Exp Med 187: 263
3036 c.1921C 3036C >T
-272, 1999
0429 CAIS Substitut. 4 641 1921 p.(Gln641 *) zero also p.W752* mut. Female Normal Uehara et al. Am J Med
LBD 3371G>A, 47XXY, Genet 86: 107-111,
3036 c.1921C 3036C >T
Muts on both X's 1999
0613 Prostate Substitut. 4 * 641 1921 p.(Gln641 *) also p.T 878A. transactiv Male Normal Ceraline et al. Int. J.
cancer LBD androgen-independent Cancer 108: 152-157,
3036 c.1921C 3036C >T ~275x induction
2004
0080 PAIS Substitut. 4 646 1937 p.(Ala646 Asp) Male Ambiguous Hiort et al. Am J Med
LBD Genet 63: 218-222,
3052 c.1937C 3052C >A
1996
0334 Normal Substitut. 4 646 1937 p.(Ala646 Asp) Male Normal Nordenskjold et al.
LBD Human Mutation. 11:
3052 c.1937C 3052C >A
339, 1998
0617 CAIS Substitut. 4 646 1937 p.(Ala646 Asp) 27 low Also p.R753Q Female Normal MacLean et al. Hum
LBD Mutat 23: 287, 2004
3052 c.1937C 3052C >A
0772 MAIS Substitut. 4 646 1937 p.(Ala646 Asp) male infertility Male Normal Ferlin et al. Clin
LBD Endocrinol 65: 606
3052 c.1937C 3052C >A
-610, 2006
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0812 PAIS Substitut. 4 * 646 1937 p.(Ala646 Asp) 28 Long poly Q and Male Ambiguous Werner et al. J Clin
LBD short poly G Endocrinol Metab 91:
3052 c.1937C 3052C >A
contribute to PAIS 3515-3520, 2006
0813 PAIS Substitut. 4 * 646 1937 p.(Ala646 Asp) 30 Long poly Q and Male Ambiguous Werner et al. J Clin
LBD short poly G Endocrinol Metab 91:
3052 c.1937C 3052C >A
contribute to PAIS 3515-3520, 2006
1078 PAIS Substitut. 4 646 1937 p.(Ala646 Asp) 30 Hughes et al. Semin
LBD Reprod Med 30: 432
3052 c.1937C 3052C >A
-442, 2012
0081 Prostate Substitut. 4 648 1943 p.(Ser648 Asn) Also p.G725D, Male Normal Taplin et al. New
cancer LBD L881Q & A897T mut England J Med 332:
3058 c.1943G 3058G >A
Somatic mutations 1393-1398, 1995
1020 Premature Substitut. 4 650 1948 p.(Thr650 Ala) Patient had Female Normal Panda et al. Gynecol
ovarian LBD menopause at 28 Endocrinol 27:1-7,
3063 c.1948A 3063A >G
failure 2011
0576 Prostate Substitut. 4 650 1950 p.(Thr650 Thr) Somatic mut. -CaP Male Normal Segawa et al. Int J of
cancer LBD Poorly diff, Stage B2 Urology 9: 545-553,
3065 c.1950C 3065C >T
+Estramustine treat 2002
0784 MAIS Substitut. 4 651 1951 p.(Ser651 Gly) Male infertility Male Normal Ferlin et al. Clin
3066 c.1951A 3066A >G
-610, 2006
0827 MAIS Substitut. 4 * 651 1951 p.(Ser651 Gly) 23 18 Hypoandrogenism, Male Normal Zuccarello et al. Clin
LBD scrotal hypoplsia Endocrinol 68: 58-588,
3066 c.1951A 3066A >G
hypospematogenesis 2008
0555 PAIS Substitut. 4 654 1960 p.(Glu654 Lys) 20 Also in family with Male Ambiguous Lundberg et al. J Clin
LBD CAH with no Endocrinol Metab 87:
3075 c.1960G 3075G >A
androgen insensitivity 2023-2028, 2002
0517 CAIS Substitut. 4 658 1972 p.(Gln658 *) Female Normal Chavez et al. Clin
LBD Genet 59: : 185-188,
3087 c.1972C 3087C >T
2001
1021 Premature Substitut. 4 658 1972 p.(Gln658 Lys) Patient had Female Normal Panda et al. Gynecol
ovarian LBD menopause at 17 Endocrinol 27: 1-7,
3087 c.1972C 3087C >A
failure 2011
0082 PAIS Substitut. 4 665 1994 p.(Ile665 Asn) 22 22 low norm Pinsky et al. Clin Inv
LBD Med 15: 456, 1992
3109 c.1994T 3109T >A
1079 PAIS Substitut. 4 665 1994 p.(Ile665 Asn) Hughes et al. Semin
3109 c.1994T 3109T >C
-442, 2012
0937 Prostate Substitut. 4 666 p.(Glu666 Asp) Treated with anti- Male Normal Steinkamp et al. Cancer
cancer LBD androgens Occurred Res 69: 4434-4442,
in 2 cases 2009
1083 CAIS Substitut. 4 671 2011 p.(Gln *) Female Normal Hughes et al. Semin
3126 c.2011 3126G >T
-442, 2012
0083 Prostate Substitut. 4 671 2012 p.(Gln671 Arg) Also p.S792P Male Normal Tilley et al. Clinical
cancer LBD 3489T>C mut. Cancer Res. 2: 277-
3127 c.2012A 3127A >G
0084 PAIS Substitut. 4 672 2015 p.(Pro672 His) Male Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3130 c.2015C 3130C >A
1996
0943 CAIS Substitut. 4 * 672 2014 p.(Pro672 Ser) Reduced transactivat Female Normal Elfferich et al. Sexual
LBD no change in DNA or Development 3: 237
3129 c.2014C 3129C >T
FxxLF binding -244, 2009
0085 Prostate Substitut. 4 673 2018 p.(Ile673 Thr) Somatic mutation Male Normal Tilley et al. Clinical
cancer LBD Cancer Res. 2: 277-
3133 c.2018T 3133T >C
285, 1996
1079 PAIS Substitut. 4 674 2021 p.(Phe674 Cys) Hughes et al. Semin
3136 c.2021T 3136T >G
-442, 2012
0086 CAIS Substitut. 4 678 2033 p.(Leu678 Pro) zero Female Normal pos Belsham et al. Human
LBD Mutation 5: 28-33,
3148 c.2033T 3148T >C
1995
1080 PAIS Substitut. 4 679 2036 p.(Glu679 Gly) Hughes et al. Semin
3151 c.2036A 3151A >G
-442, 2012
0723 CAIS Substitut. 4 681 2042 p.(Ile681 Thr) Affected twin sister Female Normal pos Ledig et al. Horm Res
LBD 63: 263-269, 2005
3157 c.2042T 3157T >C
1005 PAIS Substitut. 4 681 2042 p.(Ile681 Asn) 21 4 normal high sister , cousin and 2 Female Ambiguous pos Audi et al. J Clin
LBD great aunts affected Endocrinol Metab 95:
3157 c.2042T 3157T >A
1876-1888, 2010
0087 CAIS Substitut. 4 682 2044 p.(Glu682 Lys) Female Normal Hiort et al. J Clin
LBD Endocrinol Metab 77:
3159 c.2044G 3159G >A
262-266, 1993
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0394 CAIS Substitut. 4 682 2044 p.(Glu682 Lys) Germ cell tumour in Female Normal Chen et al. Human
LBD undescended testis Reproduction 14: 664
3159 c.2044G 3159G >A
-670, 1999
0618 CAIS Substitut. 4 682 2044 p.(Glu682 *) 21 v low Female Normal MacLean et al. Hum
LBD Mutat 23: 287, 2004
3159 c.2044G 3159G >T
0619 CAIS Substitut. 4 682 2044 p.(Glu682 *) 21 low Female Normal MacLean et al. Hum
LBD Mutat 23: 287, 2004
3159 c.2044G 3159G >T
947 CAIS Substitut. 4 682 2046 p.(Glu682 Asp) Mother a carrier- 3 Female Normal pos Wu et al. Zhonghua Yi
LBD affected siblings Xue Yi Chuan Xue Za
3161 c.2046G 3161G >T
Zhi 26: 606-609 2009
0534 PAIS Substitut. 4 683 2047 p.(Pro683 Thr) low Female Ambiguous Chavez et al. J Hum
LBD Genet. 46: 560-565,
3162 c.2047C 3162C >A
2001
0724 CAIS Substitut. 4 683 2047 p.(Pro683 Ala) low aunt, 2 sisters and Female Normal pos Ledig et al. Horm Res
LBD neice affected 63: 263-269, 2005
3162 c.2047C 3162C >G
0089 Prostate Substitut. 4 684 2051 p.(Gly684 Ala) Somatic mutation Male Normal Koivisto et al. Cancer
cancer LBD - transactivation Research 57: 314-319,
3166 c.2051G 3166G >C
normal 1997
0090 CAIS Substitut. 4 685 2053 p.(Val685 Ile) zero Female Normal Mebarki et al. 75th US
LBD Endo Soc Meeting,
3168 c.2053G 3168G >A
Abstr 602, 1993
0945 CAIS Duplicat. 4 686 2055 p.(Val686 fs) 2 nt duplicat. causing Female Normal pos Rong et al. Eur J Obst
LBD frameshift & stop in & Gynecol & Reprod
3170 p.2055_2056 3170 dupA
Codon 788 Biol 148: 53-55, 2010
_3171 G
0091 PAIS Substitut. 4 687 2059 p.(Cys687 Arg) Male Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3174 c.2059T 3174T >C
1996
1081 PAIS Substitut. 4 688 2063 p.(Ala688 Asp) Hughes et al. Semin
3178 c.2063C 3178C >A
-442, 2012
0092 PAIS Substitut. 4 688 2063 p.(Ala688 Val) Male Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3178 c.2063C 3178C >T
1996
0093 CAIS Substitut. 4 689 2066 p.(Gly689 Glu) de novo mutation Female Normal neg Hiort et al. J Pediatrics
LBD 132: 939-943, 1998
3181 c.2066G 3181G >A
0446 CAIS Substitut. 4 689 2065 p.(Gly689 *) zero Female Normal Ahmed et al. J Clin
3180 c.2065G 3180G >T
658-665, 2000
0575 CAIS Substitut. 4 * 690 2069 p.(His690 Pro) v low low high * v. low transactivation Female Normal Rosa et al. J Clin
LBD activity Endocrinol Metab 87.
3184 c.2069A 3184A >C
4378-4382, 2002.
0094 PAIS Deletion 4 6912071 p.(Asp691 del) Schwartz et al. Horm
LBD Res 41: 117 Abstr 244,
3186 c.2071_2073 3186_3188 delG
AC 1994
0656 CAIS Substitut. 4 * 691 2072 p.(Asp691 Val) high Epididymis & Vas Female Normal Tadokoro et al. Clinical
LBD deferens present - v Endocrinology 71: 253
3187 c.3187A 3187A >T
low transactivation -260, 2009
1082 PAIS Substitut. 4 691 2073 p.(Asp691 Glu Hughes et al. Semin
3188 c.2073C 3188C
-442, 2012
0095 CAIS Deletion 4 693 2077 p.(Asn693 del) normal high * Three nucleotide Female Normal Batch et al. Hum Mol
LBD 3192 delA
deletion Genet 1: 497-503, 1992
3192 c.2077_2079
_3194 AC
0704 PAIS Deletion 4 693 2077 p.(Asn693 del) normal high 3 nt deletion. 3 Female Normal pos Boehmer et al. J Clin
LBD affected siblings . Endocrinol Metab 86:
3192 c.2077_2079 3192_3194 delA
AC variable phenotype 4151-4160, 2001
0849 CAIS Substitut. 4 694 2080 p.(Gln694 *) Diag at 17y- Bilateral Female Normal Cheikhelard et al. J
LBD gonadectomy 17y Urol 180: 1496-1501,
3195 c.2080C 3195C >T
2008
0096 CAIS Substitut. 4 * 696 2086 p.(Asp696 His) low Female Normal neg Ris-Stalpers et al. Mol
LBD Endocrinol 5: 1562,
3201 c.2086G 3201G >C
1991
0097 CAIS Substitut. 4 ** 696 2086 p.(Asp696 Asn) normal normal high mutation found in two Female Normal pos Ris-Stalpers et al. Mol
LBD unrelated families Endocrinol 5: 1562,
3201 c.2086G 3201G >A
1991
0098 PAIS Substitut. 4 * 696 2086 p.(Asp696 Asn) de novo mutation Female Ambiguous Hiort et al. J Pediatrics
LBD 132: 939- 943, 1998
3201 c.2086G 3201G >A
0657 CAIS Substitut. 4 * 696 2086 p.(Asp696 Asn) Wolffian remnants Female Normal Hannema et al. J Clin
LBD present Endocrinol Metab 89:
3201 c.2086G 3201G >A
5815-5822, 2004
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0773 MAIS Substitut. 4 * 696 2086 p.(Asp696 Asn) Male infertility Male Normal Ferlin et al. Clin
3201 c.2086G 3201G >A
-610, 2006
0977 CAIS Substitut. 4 * 696 2086 p.(Asp696 Asn) Diag at 2 wk bilateral Female Normal pos Cheikhelard et al. J
LBD gonadectomy at 14yrs Urol 180: 1496-1501,
3201 c.2086G 3201G >A
2008
0978 CAIS Substitut. 4 * 696 2086 p.(Asp696 Asn) 22 17 Mother & 1 cousin Female Normal pos Audi et al. J Clin
LBD hetrozyg, 1 cousin & Endocrinol Metab 95:
3201 c.2086G 3201G >A
1 aunt affect, sister wt 1876-1888, 2010
0977 CAIS Substitut. 4 696 2086 p.(Asp696 Tyr) 19 18 Mother heterozygous Female Normal pos Audi et al. J Clin
LBD carrier Endocrinol Metab 95:
3201 c.2086G 3201G >T
1876-1888, 2010
0335 CAIS Substitut. 4 696 2087 p.(Asp696 Val) 21 mutation found in two Female Normal pos Dork et al. Human
LBD siblings Mutation 11: 337-339,
3202 c.2087A 3202A >T
1998
1053 CAIS Substitut. 4 698 2094 p.(Phe698 Leu) 24 yr. Inguinal Female Normal Ning et al. Urology 80:
LBD cryptorchism 216-218, 2012
3209 c.2094T 3209T >G
0447 CAIS Substitut. 4 701 2101 p.(Leu701 Met) zero Epididymous and Vas Female Normal Hannema et al. J Clin
LBD deferns present Endocrinol Metab 89:
3216 c.2101T 3216T >A
5815-5822, 2004
0725 CAIS Deletion 4 701 2101 p.(Leu701 fs) 13 nt del causing Female Normal pos Ledig et al. Horm Res
LBD frameshift. sister & 63: 263-269, 2005
3216 c.2101_2114 3216_3228 del
mother carr, neice aff
1084 CAIS Substitut. 4 701 2103 p.(Leu701 Phe Female Normal Hughes et al. Semin
3218 c.2103G 3218G
-442, 2012
0448 CAIS Substitut. 4 702 2094 p.(Leu702 Phe) Female Normal Ahmed et al. J Clin
3209 c.2094C 3209C >T
658-665, 2000
0518 PAIS Substitut. 4 702 2104 p.(Leu702 Ile) Chavez et al. Clin
LBD Genet 59: : 185-188,
3219 c.2104C 3219C >A
2001
0099 Prostate Substitut. 4 702 2105 p.(Leu702 His) Somatic mutation Male Normal Suzuki et al. J Steroid
cancer LBD Biochem Molec Biol
3220 c.2105T 3220T >A
46: 759, 1993
0326 Prostate Substitut. 4 702 2105 p.(Leu702 His) Somatic mutation Male Normal Watanabe et al. Jpn J
cancer LBD Clin Oncol 27: 389
3220 c.2105T 3220T >A
-393, 1997
0408 MDA Substitut. 4 702 2105 p.(Leu702 His) normal low Som. mut. Prostate Male Normal Zao et al. J of Urology
PCa-Za LBD cancer cell line. Also 162: 2192-2199, 1999
3220 c.2105T 3220T >A
has T878A
0100 CAIS Substitut. 4 703 2107 p.(Ser703 Ala) zero Female Normal Pinsky et al. Clin Inv
LBD Med 15: 456-472, 1992
3222 c.2107T 3222T >G
0101 PAIS Substitut. 4 * 704 2110 p.(Ser704 Gly) low high Male Ambiguous Radnayr et al. J of
LBD Urology 158: 1553
3225 c.2110A 3225A >G
-1556, 1997
0449 CAIS Substitut. 4 * 704 2110 p.(Ser704 Gly) Female Normal Ahmed et al. J Clin
3225 c.2110A 3225A >G
658-665, 2000
0712 PAIS Substitut. 4 704 2110 p.(Ser704 Gly) high Male Ambiguous Deeb et al. Clinical
LBD Endocrinology 63: 56
3225 c.2110A 3225A >G
-62, 2005
0713 PAIS Substitut. 4 704 2110 p.(Ser704 Gly) Female Ambiguous Deeb et al. Clinical
3225 c.2110A 3225A >G
-62, 2005
0979 CAIS Substitut. 4 704 2110 p.(Ser704 Cys) 19 18 low normal Mother, sister, Female Normal pos Audi et al. J Clin
LBD heterozygote carriers, Endocrinol Metab 95:
3225 c.2110A 3225A >T
I aunt wt 1876-1888, 2010
1085 CAIS Substitut. 4 704 2110 p.(Ser704 Cys) Female Normal Hughes et al. Semin
3225 c.2110A 3225A >T
-442, 2012
1108 CAIS Substitut. 4 704 2111 p.(Ser704 Ile) Sertoli cell adenoma- Female Normal Chin et al. J Pediatr
LBD persistence of Endocrinol Metab
3226 c.2111G 3226G >T
Mullerian derivatives 25:1145-1051, 2012
0102 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) zero Female Normal Pinsky et al. Clin Inv
LBD Med 15: 456-472, 1992
3232 c.2117A 3232A >G
0103 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) zero Female Normal DeBellis et al. Mol
LBD Endocrinol 6: 1909-20,
3232 c.2117A 3232A >G
1992
0104 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) Mutation found in Female Normal Quigley et al.
LBD two Endocrine
3232 c.2117A 3232A >G
unrelated families Reviews 16: 271, 1995
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0482 PAIS Substitut. 4 706 2117 p.(Asn706 Ser) normal high Ahmed et al. J Clin
3232 c.2117A 3232A >G
658-665, 2000
0633 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) zero Testes located in Female Normal neg Melo et al. J Clin
LBD abdomen Endorinol & Metab 88:
3232 c.2117A 3232A >G
3241-3250, 2003
0634 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) 22 zero Testes located in Female Normal pos Melo et al. Arq Bras
LBD inguinal region Endocrinol Metab 49:
3232 c.2117A 3232A >G
87-97, 2005
0980 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) 18 18 zero zero Female Normal neg Audi et al. J Clin
3232 c.2117A 3232A >G
1876-1888, 2010
0981 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) 22 18 1 affected sister, 1 Female Normal pos Audi et al. J Clin
LBD heterozygote sister, 2 Endocrinol Metab 95:
3232 c.2117A 3232A >G
wt sisters 1876-1888, 2010
1086 CAIS Substitut. 4 706 2117 p.(Asn706 Ser) Female Normal Hughes et al. Semin
3232 c.2117A 3232A >G
-442, 2012
0559 CAIS Substitut. 4 706 2116 p.(Asn706 Tyr) Sister a carrier Female Normal Sills et al. Int J Mol
LBD Med 9: 45-48, 2002
3231 c.2116A 3231A >T
0581 CAIS Substitut. 4 706 2117 p.(Asn706 Ile) Reduced Female Normal Avila et al. J Clin
LBD immunoreactive AR Endocrinol Metab 87.
3232 c.2117A 3232A >T
182-188, 2002
0582 CAIS Substitut. 4 706 2117 p.(Asn706 Ile) Low immunoreactive Female Normal Avila et al. J Clin
LBD AR Endocrinol Metab 87.
3232 c.2117A 3232A >T
182-188, 2002
0105 CAIS Substitut. 4 * 708 2123 p.(Leu708 Arg) Female Normal Lumbroso et al. J Clin
LBD Endo & Metab 81: 1984
3238 c.2123T 3238T >G
-1988, 1996
0078 CAIS Deletion 4 * 708 2123 p.(Leu708 fs) 13 nt deletionn Female Normal pos Lobaccaro et al. Mol &
(TGGGAGAGACA) causing
LBD Cellular Endocrinology
3238 c.2123_2135 3238_3250 del framshift and stop at codon
784 111: 21-8,1995
1087 CAIS Substitut. 4 709 2125 p.(Gly709 Arg Female Normal Hughes et al. Semin
3240 c.2125G 3240G >A
-442, 2012
0106 PAIS Substitut. 4 709 2126 p.(Gly709 Ala) Male Ambiguous Hiort et al: Hum Mol
LBD Genet
3241 c.2126G 3241G >C
3: 1163-1166 1994
0314 PAIS Substitut. 4 709 2126 p.(Gly709 Ala) Servere hypospadias Male Ambiguous Albers et al. J of
LBD Pediatrics 131: 388
3241 c.2126G 3241G >C
-392, 1997
0107 PAIS Substitut. 4 709 2126 p.(Gly709 Val) zero Mother had both mut. Male Ambiguous pos Auchus et al: 77th US
LBD & wt. AR genes. Endo Soc Meeting,
3241 c.2126G 3241G >T
Abstr P1-508 1995
1023 CAIS Substitut. 4 709 2126 p.(Gly709 Glu) low Almost complete loss Female Normal Rajender et al. J Androl
LBD of transaction 32: 193-198, 2011
3241 c.2126G 3241G >A
0819 PAIS Substitut. 4 * 710 2128 p.(Glu710 Lys) Female Ambiguous Geoget et al. Mol
3243 c.2128G 3243G >A
-734, 2006
0577 Prostate Substitut. 4 710 2130 p.(Glu710 Glu) Somatic mut. CaP Male Normal Segawa et al. Int J of
cancer LBD Moder diff, Stage D1 Urology 9: 545-553,
3245 c.2130G 3245G >A
+ biculitamide treat 2002
0658 CAIS Substitut. 4 711 2132 p.(Arg711 Thr) zero Sister to 0450 - Female Normal pos Hannema et al. J Clin
LBD Epididymis & Vas Endocrinol Metab 89:
3247 c.2132G 3247G >C
deferens present 5815-5822, 2004
0450 CAIS Substitut. 4 711 2132 p.(Arg711 Thr) zero Sister to 0658- Female Normal pos Hannema et al. J Clin
LBD Epidiymis & Vas Endocrinol Metab 89:
3247 c.2132G 3247G >C
deferens present 5815-5822, 2004
0525 PAIS Substitut. 4 * 712 2134 p.(Gln712 Glu) v low altered AR specificity Female Ambiguous pos Lumbroso et al. 83rd
LBD 2x increased affinity US Endo Soc Meeting,
3249 c.2134C 3249C >G
for E2. Abstr P2-29, 2001
0535 PAIS Substitut. 4 * 712 2134 p.(Gln712 Glu) normal Female Ambiguous pos Chavez et al. J Hum
LBD Genet. 46: 560-565,
3249 c.2134C 3249C >G
2001
0828 CAIS Deletion 4 712 2135 p.(Gln712 fs) 1 nt del-frameshift & Female Normal pos Galani et al. Fertility &
LBD stop in codon 788- 3 Sterility 90: 2008.e1
3250 c.2135 3250 delA
affected aunts -2008.e4, 2008
0578 Prostate Substitut. 4 712 2136 p.(Gln712 Gln) Somatic mut. CaP Male Normal Segawa et al. Int J of
cancer LBD Moder diff, Stage D2 Urology 9: 545-553,
3251 c.2136G 3251G >A
+ leuprolide treat 2002
0108 PAIS Substitut. 4 * 713 2137 p.(Leu713 Phe) normal high Phenotypic diversity Male Ambiguous pos Hiort et al. Am J Med
LBD brother of 505& 506 Genet. 63: 218-222,
3252 c.2137C 3252C >G
Testost-induced 1996
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0505 PAIS Substitut. 4 * 713 2137 p.(Leu713 Phe) normal high Phenotypic diversity Male Ambiguous pos Hiort et al. J Clin
LBD brother of 108& 506 Endocrinol Metab 85:
3252 c.2137C 3252C >G
Testost-induced 3245-3250, 2000
LBD brother of 505& 108 Endocrinol Metab 85:
3252 c.2137C 3252C >G
LBD uncle of 108,505,506 Endocrinol Metab 85:
3252 c.2137C 3252C >G
0109 Prostate Substitut. 4 ** 716 2146 p.(Val716 Met) normal Somatic mutation. Male Normal Culig et al. Mol
cancer LBD Receptor showed a Endocrinol
3261 c.2146G 3261G >A
gain in function 7: 1541-1550 1993
0110 Prostate Substitut. 4 * 716 2146 p.(Val716 Met) normal Somatic mutation. Male Normal Bubley et al 87th Am
cancer LBD Receptor showed a Assoc Cancer Res Meet
3261 c.2146G 3261G >A
gain in function Abstr. 1680, 1996
0678 CAIS Substitut. 4 * 716 p.(Val716 *) bilateral inguinal Female Normal Bouvattier et al: J Clin
LBD hernia Endorinol & Metab 87:
29-32, 2002
0792 PAIS Substitut. 4 719 2155 p.(Trp719 Arg) Somatic mosaic 2/3 Mueller et al. Hum
LBD mutant to 1/3 wt Genet 119: 680, 2006
3270 c.2155T 3270T >C
0111 CAIS Substitut. 4 719 2157 p.(Trp719 *) zero Female Normal pos Sai et al. Am J Hum
LBD Genet 46: 1095, 1990
3272 c.2157G 3272G >A
1088 CAIS Substitut. 4 719 2157 p.(Trp719 *) Female Normal Hughes et al. Semin
3272 c.2157G 3272G >A
-442, 2012
0112 Prostate Substitut. 4 721 2161 p.(Lys721 Glu) Somatic mutation- Male Normal Kleinerman et al. J of
cancer LBD Bone metastases of Urology 155: 624A,
3276 c.2161A 3276A >G
Prostate cancer 1996
0113 Prostate Substitut. 4 722 2164 p.(Ala722 Thr) Somatic mutation in Male Normal Taplin et al. New
cancer LBD 20% of isolates in England J Med 332:
3279 c.2164G 3279G >A
initial cloning 1393-1398, 1995
0583 CAIS Deletion 4 722 2164 p.(Ala722 fs) 1nt frameshift & stop Female Normal Avila et al. J Clin
LBD in codon 767 - no Endocrinol Metab 87:
3279 c.2164 3279 delG
immunoreactive AR 182-188, 2002
0584 CAIS Deletion 4 722 2166 p.(Ala722 fs) 1 nt frameshift & stop Female Normal Avila et al. J Clin
LBD - low immunoreactive Endocrinol Metab 87:
3281 c.2166 3281 delC
AR 182-188, 2002
0114 CAIS Substitut. 4 723 2169 p.(Leu723 Phe) Female Normal Hiort et al: Am J Med
LBD Genet. 63: 218-222,
3284 c.2169G 3284G >T
1996
0761 Prostate Substitut. 4 723 2169 p.(Leu723 Phe) patient lower Gleason Male Normal Sanchez et al. BJU Int
cancer LBD score than patient -wt 98: 1320-1325, 2006
3284 c.2169G 3284G >T
AR- som mutation
0451 CAIS Substitut. 4 724 2170 p.(Pro724 Ser) normal high -Epidiymis present Female Normal Hannema et al. J Clin
3285 c.2170C 3285C >T
5815-5822, 2004
0791 PAIS ? Substitut. 4 724 2171 p.(Pro724 Leu) Mueller et al. Hum
LBD Genet 119: 681, 2006
3286 c.2171C 3286C >T
0452 CAIS Substitut. 4 725 2173 p.(Gly725 Ser) zero Female Normal Ahmed et al. J Clin
3288 c.2173G 3288G >A
658-665, 2000
0453 CAIS Deletion/ 4 725 2174 p.(Gly725 Asp) zero Epididymis & Vas Female Normal Hannema et al. J Clin
Insertion LBD deferens present Endocrinol Metab 89:
3289 c.2174_2175 3289_3290 delins
AT 5815-5822, 2004
0620 CAIS Substitut. 4 725 2174 p.(Gly725 Ala) 19 normal Female Normal MacLean et al. Hum
LBD Mutat. 23: 287, 2004
3289 c.2174G 3289G >C
0798 CAIS Substitut. 4 * 725 2174 p.(Gly725 Val) zero Severley impaired Female Normal Jaaskelainen et al. Hum
LBD AR transactivation Mutat 27: 291, 2006
3289 c.2174G 3289G >T
0115 CAIS Deletion 4-8 zero Female Normal Brown et al. Proc Natl
LBD Acad Sci 85: 8151,
1988
1107 CAIS Deletion 4-8 Female Normal
LBD
0116 CAIS Deletion 5 zero Affected aunt deleted Female Normal pos Maclean et al. J Clin
LBD for exons 6 and 7 Invest, 91: 1123, 1993
only.
0117 CAIS Substitut. 5 zero p.(Tyr>Arg) Female Normal Marcelli et al. 74th US
LBD substitution Endo Soc Meetings:
Abstr. 224, 1992
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0118 PAIS Substitut. 5 * 726 2176 p.(Phe726 Leu) normal normal Mutation disrupts Male Ambiguous pos Quigley et al. Mech of
LBD N/C terminal Aging & Develop 125:
3291 c.2176T 3291T >C
interaction 683-695, 2004
0391 PAIS Substitut. 5 726 2176 p.(Phe726 Leu) Hypospadia and Male Ambiguous pos Nordenskjold et al
LBD cryptorchidism Urological Res, 27: 49
3291 c.2176T 3291T >C
-55, 1999
0119 Prostate Substitut. 5 * 727 2180 p.(Arg727 Leu) normal normal Germ line mutation Male Normal pos Elo et al. J Clin
cancer LBD present in offspring Endorinol Metab, 80:
3295 c.2180G 3295G >T
3494-3500, 1995
0508 Prostate Substitut. 5 * 727 2180 p.(Arg727 Leu) Estimated that 2% of Male Normal pos Mononen et al. Cancer
cancer LBD Finnish CAP patients Res 60: 6479-6481,
3295 c.2180G 3295G >T
have this mutation 2000
0571 Prostate Substitut. 5 727 2180 p.(Arg727 Leu) 20 Somatic mut polyGln Male Normal Hyytinen et al. Lab
Cancer LBD 24 to 20 Orchiectomy Invest. 82: 1591-1598,
3295 c.2180G 3295G >T
0687 Normal Substitut. 5 727 2180 p.(Arg727 Leu) Patient suffereing frm Normal Yan et al. Psychiatric
LBD alcoholism Genet 14. 57-60, 2004
3295 c.2180G 3295G >T
0120 MAIS Substitut. 5 728 2184 p.(Asn728 Lys) Oligospermia Male Normal Yong et al. Lancet, 344:
LBD 826-827, 1994
3299 c.2184C 3299C >G
0121 PAIS Substitut. 5 729 2186 p.(Leu729 Ser) low * McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3301 c.2186T 3301T >C
0122 Prostate Substitut. 5 * 731 2191 p.(Val731 Met) Somatic mutation Male Normal Newmark et al. Proc
Cancer LBD Natl AcadSci 89: 6319,
3306 c.2191G 3306G >A
1992
0123 Prostate Substitut. 5 * 731 2191 p.(Val731 Met) Somatic mutation Male Normal Petersiel et al. Int J
Cancer LBD Cancer 63: 544-550,
3306 c.2191G 3306G >A
1995
0762 Prostate Substitut. 5 * 731 2191 p.(Val731 Met) patient lower Gleason Male Normal Sanchez et al. BJU Int
Cancer LBD score than patient -wt 98: 1320-1325, 2006
3306 c.2191G 3306G >A
AR- som mutation
0125 CAIS Substitut. 5 * 733 2197 p.(Asp733 Tyr) high Female Normal Brown et al. 74th US
3312 c.2197G 3312G >T
Abstr 1506, 1992
0126 CAIS Substitut. 5 733 2197 p.(Asp733 Tyr) zero Female Normal Pinsky et al. Clin Inv
LBD Med 15: 456, 1992
3312 c.2197G 3312G >T
0127 CAIS Substitut. 5 733 2197 p.(Asp733 Tyr) Female Normal Ghirri and Brown.
LBD Pediatr Res 33:
3312 c.2197G 3312G >T
Abstr 95, 1993
0801 CAIS Substitut. 5 733 2197 p.(Asp733 Tyr) 6 affected family Female Normal pos Scott et al. Endocr Pract
LBD members 12: 664-669, 2006
3312 c.2197G 3312G >T
0124 CAIS Substitut. 5 733 2197 p.(Asp733 Asn) high Female Normal Brown et al. 74th US
3312 c.2197G 3312G >A
Abstr 1506, 1992
0659 CAIS Substitut. 5 733 2197 p.(Asp733 Asn) Epididymis & Vas Female Normal Hannema et al. J Clin
LBD deferens present Endocrinol Metab 89:
3312 c.2197G 3312G >A
5815-5822, 2004
0310 CAIS Substitut. 5 733 2197 p.(Asp733 Asn) 19 Female Normal Ko et al. J Reprod.
LBD Med 42: 424- 427, 1997
3312 c.2197G 3312G >A
0955 CAIS Substitut. 5 733 2197 p.(Asp733 Asn) Female Normal neg Wu et al. Fertility &
LBD Sterility 93: 2076, e1-4,
3312 c.2197G 3312G >A
2010
0628 Prostate Substitut. 5 733 2199 p.(Asp733 Asp) Orch + Bicalutiamide Male Normal Haapala et al. Lab
cancer LBD +phosphamide treat Invest. 81: 1647-1651,
3314 c.2199C 3314C >T
Gleason 10. Somatic 2001
0752 CAIS Substitut. 5 734 2200 p.(Gln734 *) No WD development Female Normal neg Barbaro et al. Clin
3315 c.2200C 3315C >T
-826, 2007
0128 PAIS Substitut. 5 734 2202 p.(Gln734 His) This patient was a Female Ambiguous neg Hiort et al. J Pediatrics
LBD mosaic for wt. & mut. 132: 939- 943, 1998
3317 c.2202G 3317G >T
alleles- de novo mut.
0726 CAIS Substitut. 5 738 2212 p.(Ile738 Phe) Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3327 c.2212A 3327A >T
0129 PAIS Substitut. 5 * 738 2213 p.(Ile738 Thr) low Mutation disrupts Male Ambiguous pos Quigley et al. Mech
LBD N/C terminal Aging & Develop 125:
3328 c.2213T 3328T >C
interaction 683-695
0944 CAIS Substitut. 5 * 739 2216 p.(Gln739 Arg) V reduced transactiv Female Normal Elfferich et al. Sexual
LBD reduced interaction Development 3: 237
3331 c.2216A 3331A >G
with FxxLX -244, 2009
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0530 CAIS Substitut. 5 * 740 2218 p.(Tyr740 Asp) zero no transactivation in Female Normal Suzuki et al. Int. J
LBD COS-1 cells Andrology 24: 183-188,
3333 c.2218T 3333T >G
2001
0616 PAIS Substitut. 5 * 741 2222 p.(Ser741 Cys) v low Acute stress masked Male Ambiguous pos Pitteloud et al. J Clin
LBD PAIS. Endorinol & Metab 89:
3337 c.2222C 3337C >G
1053-1058, 2004
0130 CAIS Substitut. 5 * 742 2224 p.(Trp742 Arg) low Female Normal neg Marcelli et al. J Clin
LBD Invest 94: 1642-1650,
3339 c.2224T 3339T >C
1994
0360 Prostate Substitut. 5 742 2225 p.(Trp742 *) Somatic mutation Male Normal Takahashi et al. Cancer
cancer LBD Research 55: 1621
3340 c.2225G 3340G >A
-1624, 1995
0595 CAIS Substitut. 5 * 742 2225 p.(Trp742 Leu) Reduced Female Normal Avila et al. J Clin
3340 c.2225G 3340G >T
182-188, 2002
0858 CAIS Substitut. 5 742 2225 p.(Trp742 Leu) Diag at birth bilateral Female Normal pos Cheikhelard et al. J
LBD gonadectomy at 14yr Urol 180: 1496-1501,
3340 c.2225G 3340G >T
2008
0859 CAIS Substitut. 5 742 2225 p.(Trp742 Leu) Diag at birth bilateral Female Normal pos Cheikhelard et al. J
LBD gonadectomy at Urol 180: 1496-1501,
3340 c.2225G 3340G >T
12.5yr 2008
0629 Prostate Substitut. 5 742 2226 p.(Trp742 Cys) Orch + bicalutamide Male Normal Haaplaa et al. Lab
cancer LBD Gleason 10- somatic Invest. 81: 1647-1651,
3341 c.2226G 3341G >T
mutation 2001
0635 PAIS Substitut. 5 742 2226 p.(Trp742 Cys) 27 low high Testes located in Male Ambiguous pos Melo et al. J Clin
LBD scrotum - Also has p. Endorinol & Metab 88:
3341 c.2226G 3341G >C
(Leu548Phe mutation 3241-3250, 2003
0552 Prostate Substitut. 5 742 2226 p.(Trp742 Cys) Treated with Male Normal Taplin et al. J Clinical
cancer LBD bicalutamide - Oncology 21: 2673
3341 c.2226G 3341G >T
somatic mutation -2678, 2003
0982 CAIS Substitut. 5 742 2224 p.(Trp742 Arg) 23 17 Female Normal neg Audi et al. J Clin
3339 c.2224T 3339T >C
1876-1888, 2010
0131 PAIS Substitut. 5 743 2227 p.(Met743 Val) high Ris-Stalpers et al.
LBD Pediatric Res. 36: 227
3342 c.2227A 3342A >G
-234,1994
0341 PAIS Substitut. 5 743 2227 p.(Met743 Val) 21 zero Testis located in Female Ambiguous pos Melo et al. J Clin
LBD inginual region Endorinol & Metab 88:
3342 c.2227A 3342A >G
3241-3250, 2003
0744 PAIS Substitut. 5 743 2227 p.(Met743 Val) affected neice of 0131 Female Ambiguous Boehmer et al. J Clin
3342 c.2227A 3342A >G
4151-4160, 2001
0132 PAIS Substitut. 5 * 743 2229 p.(Met743 Ile) normal high * Female Ambiguous Batch et al. Hum Mol
LBD Genet 1: 497, 1992
3344 c.2229G 3344G >A
0948 PAIS Substitut. 5 743 2229 p.(Met743 Ile) Female Ambiguous Nagaraja et al. J Pediatr
3344 c.2229G 3344G >A
1169-1173, 2009
1006 PAIS Substitut. 5 743 2229 p.(Met743 Ile) 18 18 low normal Mother heterozygote Male Ambiguous pos Audi et al. J Clin
3344 c.2229G 3344G >A
1876-1888, 2010
0133 PAIS Substitut. 5 * 744 2229 p.(Gly744 Val) low high Transcription only at Female Ambiguous Georget et al. J Clin
LBD high conc of Endocrinol Metab 83:
3346 c.2231G 3346G >T
androgen 3597-3603, 1998
0134 PAIS Substitut. 5 744 2229 p.(Gly744 Val) normal normal * Nakao et al. J Clin
3346 c.2231G 3346G >T
103-107, 1993
0414 CAIS Substitut. 5 744 2229 p.(Gly744 Val) zero de novo mutation Female Normal Lobaccaro et al. J
LBD Steroid Biochem & Mol
3346 c.2231G 3346G >T
Biol. 44: 211-216, 1993
0536 CAIS Substitut. 5 744 2229 p.(Gly744 Glu) normal Female Normal Chavez et al. J Hum
LBD Genet. 46: 560-56, 2001
3346 c.2231G 3346G >A
0564 CAIS Substitut. 5 * 744 2229 p.(Gly744 Glu) v low high high * Female Normal Pujol et al. J Clin
LBD Endorinol & Metab. 87:
3346 c.2231G 3346G >A
5793-5800. 2002
0572 Prostate Substitut. 5 744 2232 p.(Gly744 ) Somatic mutation + Male Normal Hyytinen et al. Lab
cancer LBD estrogen treatment Invest. 82: 1591-1598,
3347 c.2232G 3347G >C
0361 Prostate Deletion 5 744 2232 p.(Gly744 fs) Frameshift-somatic Male Normal Takahashi et al. Cancer
cancer LBD mut.- separate tumor Research 55: 1621
3347 c.2232 3347 delG
in same indv. as 0362 -1624, 1995
0519 CAIS Substitut. 5 744 2230 p.(Gly744 Arg) Female Normal Chavez et al. Clin
LBD Genet 59: : 185-188,
3345 c.2230G 3345G >C
2001
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0983 CAIS Substitut. 5 744 2231 p.(Gly744 Val) 24 17 Female Normal neg Audi et al. J Clin
3346 c.2231G 3346G >T
1876-1888, 2010
0135 CAIS Substitut. 5 745 2233 p.(Leu745 Phe) 1 affected sibling pos Boehmer et al. J Clin
3348 c.2233C 3348C >T
4151-4160, 2001
0984 CAIS Substitut. 5 745 2233 p.(Leu745 Phe) 21 17 1 heterozygote sister Female Normal pos Audi et al. J Clin
LBD & 1 wt sister Endocrinol Metab 95:
3348 c.2233C 3348C >T
1876-1888, 2010
0362 Prostate Substitut. 5 745 2233 p.(Leu745 Phe) Somatic mutation - Male Normal Takahashi et al. Cancer
cancer LBD separate tumor in Research 55: 1621
3348 c.2237T 3348C >T
same indv. as 0361 -1624, 1995
0136 PAIS Substitut. 5 746 2237 p.(Met746 Thr) zero Ris-Stalpers et al.
LBD Pediatric Res 36: 227
3352 c.2237T 3352T >C
-234, 1994
0727 CAIS Substitut. 5 746 2237 p.(Met746 Thr) Mother and sisters Female Normal pos Ledig et al: Horm Res
LBD heterozygotous 63: 263-269, 2005
3352 c.2237T 3352T >C
0755 CAIS Substitut. 5 * 746 2238 p.(Met746 Ile) Enanced affinity for Female Normal Bonagura et al. Mol
LBD & increased transact Cell Endocrinol 263: 79
3353 c.2238G 3353G >C
for estradiol -89, 2007
1007 PAIS Substitut. 5 746 2236 p.(Met746 Leu) 23 17 mother & Male Ambiguous pos Audi et al. J Clin
LBD grandmother Endocrinol Metab 95:
3351 c.2236A 3351A >C
heterozyote carriers 1876-1888, 2010
0138 PAIS Substitut. 5 747 2239 p.(Val747 Met Male Ambiguous Hiort et al. Am J Med
LBD ) Genet. 63: 218-222,
3354 c.2239G 3354G >A
1996
0137 PAIS Substitut. 5 747 2239 p.(Val747 Met Brown et al. 74th US
LBD ) Endo Soc Meeting,
3354 c.2239G 3354G >A
Abstr 1506, 1992
0949 PAIS Substitut. 5 747 2239 p.(Val747 Met Nagaraja et al. J Pediatr
LBD ) Endocrinol Metab 22:
3354 c.2239G 3354G >A
1169-1173, 2009
0785 MAIS Substitut. 5 748 2242 p.(Phe748 Ile) Male Infertility Male Normal Ferlin et al. Clin
3357 c.2242T 3357T >A
-610, 2006
0985 CAIS Substitut. 5 748 2243 p.(Phe748 Cys) 23 17 1 wt sister Female Normal neg Audi et al. J Clin
3358 c.2243T 3358T >G
1876-1888, 2010
0763 Prostate Deletion 5 748 2244 p.(Phe748 fs) patient lower Gleason Male Normal Sanchez et al. BJU Int
3359 c.2244 3359 delT
AR- som mutation
0492 Prostate Substitut. 5 749 2245 p.(Ala749 Thr) Also p.(S866P; Male Normal Marcelli et al. Cancer
cancer LBD Q868* and Q920R). Research 60: 944-949,
3360 c.2245G 3360G >A
Somatic mutations 2000
0565 Prostate Substitut. 5 * 749 2245 p.(Ala749 Thr) normal high Somatic mutation. Male Normal James et al. Mol
cancer LBD weaker interaction Endocrinol. 16: 2692
3360 c.2245G 3360G >A
with HSP -2705, 2002
0139 PAIS Substitut. 5 * 749 2246 p.(Ala749 Asp low high Abnormal Marcelli et al. J Clin
LBD ) dissociation Invest 94: 1642-1650,
3361 c.2246C 3361C >A
1994
0363 Prostate Substitut. 5 749 2246 p.(Ala749 Val) Somatic mutation Male Normal Takahashi et al. Cancer
3361 c.2246C 3361C >T
-1624, 1995
0140 CAIS Substitut. 5 750 2248 p.(Met750 Val) Female Normal pos DeBellis et al. Mol
3363 c.2248A 3363A >G
1992
0141 CAIS Substitut. 5 750 2248 p.(Met750 Val) Female Normal pos Jakubiczka et al. Hum
LBD Genet 90: 311-2, 1992
3363 c.2248A 3363A >G
0483 PAIS Substitut. 5 750 2248 p.(Met750 Val normal high Ahmed et al. J Clin
3363 c.2248A 3363A >G)
658-665, 2000
0614 CAIS Substitut. 5 750 2248 p.(Met750 Val) Fallopian tube present Female Normal Van et al. Eur J.
LBD Pediatr. 162: 781-784,
3363 c.2248A 3363A >G
2003
0679 CAIS Substitut. 5 750 2248 p.(Met750 Val) bilateral inguinal Female Normal Bouvattier et al: J Clin
3363 c.2248A 3363A >G
29-32, 2002
0680 CAIS Substitut. 5 750 2248 p.(Met750 Val) Diff between ext Female Normal Bouvattier et al: J Clin
LBD genital & chrom - in Endorinol & Metab 87:
3363 c.2248A 3363A >G
amniocentesis 29-32, 2002
0364 Prostate Substitut. 5 750 2250 p.(Met750 Ile) Somatic mutation Male Normal Takahashi et al. Cancer
3365 c.2250G 3365G >A
-1624, 1995
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0630 Prostate Substitut. 5 750 2250 p.(Met750 Ile) Orch + bicalutamide Male Normal Haaplaa et al. Lab
cancer LBD Gleason 10 +silent Invest. 81: 1647-1651,
3365 c.2250G 3365G >A
mut Q868Q(G>A) 2001
0365 Prostate Substitut. 5 751 2251 p.(Gly751 Ser) Somatic mutation Male Normal Takahashi et al. Cancer
3366 c.2251G 3366G >A
-1624, 1995
0142 CAIS Substitut. 5 * 751 2252 p.(Gly751 Asp v low Mutation found in Female Normal Bevan et al. J Steroid
LBD ) two unrelated patients Biochem Mole Biol 61:
3367 c.2252G 3367G >A
19-26, 1997
0143 CAIS Substitut. 5 751 2252 p.(Gly751 Asp Female Normal Brown et al: 74th US
LBD ) Endo Soc Meeting
3367 c.2252G 3367G >A
Abstr 1506, 1992
0144 CAIS Substitut. 5 752 2254 p.(Trp752 Arg) low high Sibling of 0703 Female Normal pos Brinkmann et al. J
LBD Steroid Biochem Mol
3369 c.2254T 3369T >A
Biol 53: 443, 1995
3370 c.2255G 3370G >A
-1624, 1995
3370 c.2255G 3370G >A
-1624, 1995
3371 c.2256G 3371G >A
-1624, 1995
0401 CAIS Substitut. 5 752 2256 p.(Trp752 *) zero Female Normal Yaegashi et al. Tohoku
3371 c.2256G 3371G >A
-272, 1999
0664 PAIS Substitut. 5 752 2256 p.(Trp752 *) Somatic mosaicism - Female Ambiguous Kohler et al. J Clin
LBD male changed to Endocrinol Metab 90:
3371 c.2256G 3371G >A
female at 18mths 106-111, 2005
0703 CAIS Substitut. 5 752 2254 p.(Trp752 Arg) normal high Sibling of 0144 Female Normal Boehmer et al. J Clin
3369 c.2254T 3369T >A
4151-4160, 2001
1089 CAIS Substitut. 5 * 753 2257 p.(Arg753 *) Female Normal Hughes et al. Semin
3372 c.2257C 3372C >T
-442, 2012
0145 CAIS Substitut. 5 * 753 2257 p.(Arg753 *) zero Female Normal Pinsky et al. Clin Inv
LBD Med 15: 456, 1992
3372 c.2257C 3372C >T
0146 CAIS Substitut. 5 * 753 2257 p.(Arg753 *) Female Normal Brinkmann et al. J
LBD Steroid Biochem Mol
3372 c.2257C 3372C >T
Biol 53: 443, 1995
0342 CAIS Substitut. 5 * 753 2257 p.(Arg753 *) 16 zero Testes located in Female Normal pos Melo et al. J Clin
LBD abdomen Endorinol & Metab 88:
3372 c.2257C 3372C >T
3241-3250, 2003
0402 CAIS Substitut. 5 * 753 2257 p.(Arg753 *) zero Female Normal Yaegashi et al. Tohoku
3372 c.2257C 3372C >T
-272, 1999
0728 CAIS Substitut. 5 * 753 2257 p.(Arg753 *) Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3372 c.2257C 3372C >T
0754 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) Inherted from Female Normal pos Olafsson et al.
LBD maternal grandmother Laeknabladid 86: 263
3373 c.2258G 3373G >A
present in two sisters -166, 2000
0147 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) zero Mutation found in Female Normal Brown et al. 74th US
LBD two unrel. families. Endo Soc Meeting,
3373 c.2258G 3373G >A
Equivalent to tfm rat Abstr 1506, 1992
0333 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) Female Normal pos Komori et al. Arch
LBD Gynecol & Obstetrics
3373 c.2258G 3373G >A
261: 95-100, 1998
0349 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) Female Normal Cabral et al. Brazilian J
LBD Med & Biol Res. 31:
3373 c.2258G 3373G >A
775-758, 1998
0148 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) zero Equivalent to tfm rat Female Normal Evans. J Endocrinol
LBD 135 Suppl, Abstr P26,
3373 c.2258G 3373G >A
1992
0497 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) Bilateral testicular Female Normal Sakai et al. IntJ of
LBD tumors Urology 7: 390-392,
3373 c.2258G 3373G >A
2000
0860 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) Prenatal diagnosis Female Normal Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3373 c.2258G 3373G >A
2008
1090 CAIS Substitut. 5 * 753 2258 p.(Arg753 Gln) Female Normal Hughes et al. Semin
3373 c.2258G 3373G >A
-442, 2012
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
1091 CAIS Substitut. 5 * 753 2258 p.(Arg753 Pro) Female Normal Hughes et al. Semin
3373 c.2258G 3373G >C
-442, 2012
0149 CAIS Substitut. 5 755 2263 p.(Phe755 Val) zero Female Normal Lobaccaro et al. Hum
LBD Mol Genet 2: 1041
3378 c.2263T 3378T >G
-1043, 1993
0369 Prostate Substitut. 5 755 2263 p.(Phe755 Leu) Somatic mutation Male Normal Takahashi et al. Cancer
3378 c.2263T 3378T >C
-1624, 1995
0879 CAIS Substitut. 5 * 755 2263 p.(Phe755 Val) high Greatly reduced Female Normal Tadokoro et al. Clinical
LBD transactivation 5% Endocrinology 71: 253
3378 c.2263T 3378T >G
-260, 2009
0150 CAIS Substitut. 5 755 2263 p.(Phe755 Val) Female Normal Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3378 c.2263T 3378T >G
1996
0880 PAIS Substitut. 5 * 755 2264 p.(Phe755 Ser) normal Microphallus no Male Ambiguous Tadokoro et al. Clinical
LBD hypospadias Endocrinology 71: 253
3379 c.2264T 3379T >C
-260, 2009
1050 MAIS Substitut. 5 * 755 2264 p.(Phe755 Ser) Azoospermia. Fertile Male Normal Massin et al. Clin
LBD - intracytoplasmic Endorinol (Oxf) 77:593
3379 c.2264T 3379T >C
sperm injection -598, 2012
0715 PAIS Substitut. 5 * 755 2265 p.(Phe755 Leu) high Microphallus, Male Ambiguous Deeb et al. Clinical
LBD hypospadias, Endocrinology 63: 56
3380 c.2265C 3380C >A
cryptorchisms -62, 2005
0152 PAIS Substitut. 5 * 755 2265 p.(Phe755 Leu) normal high * Male Ambiguous Weidemann et al. Clin
3380 c.2265C 3380C >A
-739, 1996
0151 PAIS Substitut. 5 755 2265 p.(Phe755 Leu) Male Ambiguous Hiort et al: Hum Mol
LBD Genet
3380 c.2265C 3380C >A
3: 1163-1166 1994
0714 PAIS Substitut. 5 755 2265 p.(Phe755 Leu) high * Male Ambiguous Deeb et al. Clinical
3380 c.2265C 3380C >A
-62, 2005
0370 Prostate Substitut. 5 756 2266 p.(Thr756 Ala) Somatic mutation Male Normal Takahashi et al. Cancer
3381 c.2266A 3381A >G
-1624, 1995
0602 Prostate Substitut. 5 757 2269 p.(Asn757 Asp Flutamide treated - Male Normal Taplin et al. J Clinical
cancer LBD ) somatic mutation Oncology 21: 2673
3384 c.2269A 3384A >G
-2678, 2003
0153 PAIS Substitut. 5 757 2270 p.(Asn757 Ser) Male Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3385 c.2270A 3385A >G
1996
0532 MAIS Substitut. 5 * 757 2270 p.(Asn757 Ser) high Severe oligospermia- Male Normal Giwercman et al. Clin
LBD transactivation 38% Endocrinol 54: 827
3385 c.2270A 3385A >G
of wt. -834, 2001
1039 PAIS Substitut. 5 757 2270 p.(Asn757 Ser) External Male Ambiguous pos Hellmann et al. Arch
LBD Masculisation Score Dis Child 97:403-409,
3385 c.2270A 3385A >G
= 12 2012
1040 PAIS Substitut. 5 757 2270 p.(Asn757 Ser) External Male Ambiguous pos Hellmann et al. Arch
3385 c.2270A 3385A >G
= 12 2012
0573 Prostate Substitut. 5 758 2272 p.(Val758 Ile) Somatic mutation + Male Normal Hyytinen et al. Lab
cancer LBD Orchiectomy Invest. 82: 1591-1598,
3387 c.2272G 3387G >A
Horm-refractor y CaP 2002
0300 Prostate Substitut. 5 * 758 2273 p.(Val758 Ala) Binds R1881 norm.- Male Normal James et al. 79th US
cancer LBD transcriptionally Endo Soc Meeting,
3388 c.2273T 3388T >C
inactive- Som mut Abstr P2-484, 1997
0493 Prostate Substitut. 5 758 2273 p.(Val758 Ala) Somatic mutation Male Normal Marcelli et al. Cancer
cancer LBD Research 60: 944-949,
3388 c.2273T 3388T >C
2000
0346 PAIS Substitut. 5 * 759 2276 p.(Asn759 Thr) normal high * 50% reduction in Yong et al. Mol & Cell
LBD transactivation in Endocrinol. 137: 41-50,
3391 c.2276A 3391A >C
COS-7 1998
0371 Prostate Substitut. 5 760 2278 p.(Ser760 Pro) Somatic mutation Male Normal Takahashi et al. Cancer
3393 c.2278T 3393T >C
-1624, 1995
0154 CAIS Substitut. 5 760 2279 p.(Ser760 Phe) zero Female Normal DeBellis et al. Mol
LBD Endocrinol, 6: 1909-20,
3394 c.2279C 3394C >T
1992
1092 CAIS Substitut. 5 760 2279 p.(Ser760 Tyr) Female Normal Hughes et al. Semin
3394 c.2279C 3394C >A
-442, 2012
0605 CAIS Deletion/ 5 761 p.(Arg761 fs) zero also 3396_3402del7 Female Normal pos Vichlis et al. J Hum
insertion LBD & 3408_3418ins11 Genet 48: 346-351,
stop 9 codon downstr. 2003
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0841 PAIS Substitut. 5 761 p.(Arg761 Ser) Jeske et al. J Pediatr
893-908, 2007
0938 Prostate Substitut. 5 761 p.(Arg761 ) Silent mut. Treated Male Normal Steinkamp et al. Cancer
cancer LBD with anti-androgens. Res 69: 4434-4442,
Occurred in >2 cases 2009
0729 PAIS Substitut. 5 762 2285 p.(Met762 Thr) mother heterozygous Male Ambiguous pos Ledig et al: Horm Res
LBD 63: 263-269, 2005
3400 c.2285T 3400T >C
0155 CAIS Substitut. 5 763 2287 p.(Leu763 Phe) zero Female Normal Brown et al. 74th US
3402 c.2287C 3402C >T
Abstr 1506, 1992
0156 CAIS Substitut. 5 * 763 2287 p.(Leu763 Phe) zero Female Normal Bevan et al. J Steroid
LBD Biochem Mole Biol 61:
3402 c.2287C 3402C >T
19-26, 1997
0861 CAIS Substitut. 5 763 2287 p.(Leu763 Phe) Diag at 7yr bilateral Female Normal pos Cheikhelard et al. J
3402 c.2287C 3402C >T
2008
0862 CAIS Substitut. 5 763 2287 p.(Leu763 Phe) Diagnosed at 1 wk Female Normal pos Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3402 c.2287C 3402C >T
2008
0157 CAIS Substitut. 5 764 2290 p.(Tyr764 His) Female Normal Quigley et al. Endocrin.
LBD Reviews, 16: 271, 1995
3405 c.2290T 3405T >C
0159 PAIS Substitut. 5 764 2291 p.(Tyr764 Cys) low Male Ambiguous Morono et al. Human
3406 c.2291A 3406A >G
1995
0405 PAIS Substitut. 5 764 2291 p.(Tyr764 Cys) Male Ambiguous Batch et al. Arch
LBD Disease Child 68: 453,
3406 c.2291A 3406A >G
1993
0484 PAIS Substitut. 5 764 2291 p.(Tyr764 Cys) normal high Ahmed et al. J Clin
3406 c.2291A 3406A >G
658-665, 2000
0485 PAIS Substitut. 5 764 2291 p.(Tyr764 Cys) normal high Ahmed et al. J Clin
3406 c.2291A 3406A >G
658-665, 2000
0636 PAIS Substitut. 5 764 2291 p.(Tyr764 Cys) 22 low Gynocomastia -testis Male Ambiguous neg Melo et al. J Clin
LBD located in scrotum Endorinol & Metab 88:
3406 c.2291A 3406A >G
3241-3250, 2003
0372 Prostate Substitut. 5 764 2291 p.(Tyr764 Cys) Somatic mutation Male Normal Takahashi et al. Cancer
Cancer LBD Research 55: 1621
3406 c.2291A 3406A >G
-1624, 1995
0158 PAIS Substitut. 5 * 764 2291 p.(Tyr764 Cys) 12 normal high * PolyGln tract short Male Ambiguous pos McPhaul et al.J Clin Inv
LBD ( only 12 repeats) 87: 1413,1991:
3406 c.2291A 3406A >G
Batch&al Arc Dis Ch
0850 CAIS Substitut. 5 764 p.(Tyr764 *) Diag at 1 wk-Bilateral Female Normal Cheikhelard et al. J
LBD gonadectomy at 3wks Urol 180: 1496-1501,
2008
0160 CAIS Substitut. 5 * 765 p.(Phe765 Leu) low high Female Normal neg Marcelli et al. J Clin
LBD Invest 94: 1642-1650,
1994
0161 CAIS Substitut. 5 765 2293 p.(Phe765 Leu) zero Female Normal Ris-Stalpers et al:
LBD Pediatric Res,36. 227
3408 c.2293T 3408T >C
-234, 1994
0162 CAIS Substitut. 5 765 2295 p.(Phe765 Leu) low normal Female Normal Pinsky et al. Clin Inv
LBD Med, 15: 456, 1992
3410 c.2295C 3410C >G
0163 CAIS Substitut. 5 ** 766 2296 p.(Ala766 Thr) zero Female Normal Bevan et al. J Steroid
LBD Biochem Mole Biol 61:
3411 c.2296G 3411G >A
19-26, 1997
0164 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) zero Female Normal Merkabi et al.75th US
LBD Endo Soc Meeting
3411 c.2296G 3411G >A
Abstr 602, 1993
0165 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) Female Normal Sweet et al. Fertil
LBD Sterilty 58: 703, 1992
3411 c.2296G 3411G >A
0166 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) zero Female Normal Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3411 c.2296G 3411G >A
1996
0311 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) 27 Female Normal Ko et al. J Reprod.
LBD Med 42: 424- 427, 1997
3411 c.2296G 3411G >A
0382 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) Female Normal Giwercman et al.
LBD Human Genetics 103:
3411 c.2296G 3411G >A
529-531, 1998
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0454 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) Female Normal Ahmed et al. J Clin
3411 c.2296G 3411G >A
658-665, 2000
0455 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) Female Normal Ahmed et al. J Clin
3411 c.2296G 3411G >A
658-665, 2000
0456 CAIS Substitut. 5 * 766 2296 p.(Ala766 Thr) Woolfian remnants Female Normal Hannema et al. J Clin
3411 c.2296G 3411G >A
5815-5822, 2004
0585 CAIS Substitut. 5 766 2296 p.(Ala766 Thr) Reduced Female Normal Avila et al. J Clin
3411 c.2296G 3411G >A
182-188, 2002
0586 PAIS Substitut. 5 766 2296 p.(Ala766 Thr) Reduced Female Ambiguous Avila et al. J Clin
3411 c.2296G 3411G >A
182-188, 2002
0730 CAIS Substitut. 5 766 2296 p.(Ala766 Thr) Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3411 c.2296G 3411G >A
0520 PAIS Substitut. 5 766 2296 p.(Ala766 Ser) Chavez et al. Clin
LBD Genet 59: 185-188,
3411 c.2296G 3411G >T
2001
0167 CAIS Substitut. 5 766 2297 p.(Ala766 Val) 20 zero Female Normal Pinsky et al, Clin Inv
LBD Med, 15: 456-472, 1992
3412 c.2297C 3412C >T
0168 CAIS Substitut. 5 * 767 2299 p.(Pro767 Ser) low high high Female Normal pos Marcelli et al. J Clin
LBD Invest 94: 1642-1650.
3414 c.2299C 3414C >T
1994
0457 CAIS Substitut. 5 767 2299 p.(Pro767 Ser) Female Normal Ahmed et al. J Clin
3414 c.2299C 3414C >T
658-665, 2000
0681 CAIS Substitut. 5 767 2299 p.(Pro767 Ala) bilateral inguinal Female Normal Bouvattier et al. J Clin
LBD hernia Endocrinol Metab 87:
3414 c.2299C 3414C >G
29-32, 2002
0543 CAIS Substitut. 5 767 2299 p.(Pro767 Ala) normal high 2 affcted siblings Female Normal pos Boehmer et al. J Clin
LBD variable phenotype Endocrinol Metab 86:
3414 c.2299C 3414C >G
4151-4160, 2001
0611 CAIS Substitut. 5 767 2299 p.(Pro767 Ala) Twin sisters Female Normal pos Correa et al. 16th Meet.
LBD Latin Amer.Soc Ped
3414 c.2299C 3414C >G
Endo. Abstr: 26, 2003
0587 CAIS Deletion 5 767 2300 p.(Pro767 fs) 1 nt del.-frameshift & Female Normal Avila et al. J Clin
LBD stop, low Endocrinol Metab 87:
3415 c.2300 3415 delC
immunoreact AR 182-188, 2002
0169 CAIS Deletion 5 767 2301 p.(Pro767 fs) Single nt deletion Female Normal pos Baldazzi et al. Hum
LBD causing frameshift & Mol Genet
3416 c.2301 3416 delT
stop in codon 808 3: 1169-1170, 1994
0388 CAIS Deletion 5 767 2301 p.(Pro767 fs) Single nt deletion Female Normal Chung et al. Molecules
LBD causing frameshift & & Cells 8: 741-745,
3416 c.2301 3416 delT
stop in codon 808 1998
0458 CAIS Deletion 5 767 2301 p.(Pro767 fs) 1nt del-frameshit & Female Normal Hannema et al. J Clin
LBD stop in codon 808 Endocrinol Metab 89:
3416 c.2301 3416 delT
Wolffian remnants 5815-5822, 2004
0459 CAIS Deletion 5 767 2301 p.(Pro767 fs) 1nt del-frameshit & Female Normal Hannema et al. J Clin
LBD stop in codon 808 Endocrinol Metab 89:
3416 c.2301 3416 delT
Wolffian remnants 5815-5822, 2004
0561 CAIS Deletion 5 767 2301 p.(Pro767 fs) 1nt del frame shift & Female Normal Soriano Guillén et al.
LBD stop in codon 808 An Esp Pediatr 56: 347
3416 c.2301 3416 delT
in 2 unrelat individs -352, 2002
0588 CAIS Deletion 5 767 2301 p.(Pro767 fs) 1 nt del framshift & Female Normal Avila et al. J Clin
LBD stop codon 808 no Endocrinol Metab 87.
3416 c.2301 3416 delT
immunoreact AR 182-188, 2002
0853 CAIS Deletion 5 767 2301 p.(Pro767 fs) 1nt del framshift & Female Normal Cheikhelard et al. J
LBD stop in codon 808 Urol 180: 1496-1501,
3416 c.2301 3416 delT
Diag - 7yr Wolff rem 2008
0953 CAIS Deletion 5 767 2301 p.(Pro767 fs) 1nt del framshift & Female Normal T'Sjoen et al. Arch Sex
LBD stop in codon 808 Behav 40: 655-638,
3416 c.2301 3416 delT
Male gender identity 2011
0665 PAIS Substitut. 5 767 2299 p.(Pro767 Ser) Somatic mosaicism Female Ambiguous Kohler et al. J Clin
3414 c.2299C 3414C >T
106-111, 2005
0170 CAIS Substitut. 5 768 2304 p.(Asp768 Glu) v low Female Normal Lobaccaro et al. Pediatr
LBD Res 33: Abstr. 115,
3419 c.2304T 3419T >G
1993
0343 CAIS Substitut. 5 768 2304 p.(Asp768 Glu) Female Normal Melo et al. 80th US
3419 c.2304T 3419T >G
Abstr P2-44, 1998
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0893 CAIS Substitut. 5 768 2302 p.(Asp768 Tyr) Bone size Female Normal Taes et al. Bone 45:
LBD intermediate between 392-397, 2009
3417 c.2302G 3417G >T
male and female
0544 PAIS Substitut. 5 769 2305 p.(Leu 769 Met normal high 2 affected siblings Female Ambiguous pos Boehmer et al. J Clin
LBD ) with variable Endocrinol Metab 86:
3420 c.2305C 3420C >A
phenotype 4151-4160, 2001
0637 CAIS Substitut. 5 769 2305 p.(Leu769 Val) 20 Testis located in labia Female Normal Melo et al. J Clin
LBD majora Endorinol & Metab 88:
3420 c.2305C 3420C >G
3241-3250, 2003
0460 CAIS Substitut. 5 769 2306 p.(Leu769 Pro) Female Normal Ahmed et al. J Clin
3421 c.2306T 3421T >C
658-665, 2000
0666 CAIS Deletion/ 5 771 2312 p.(Phe771 *) Somatic mosaicism Female Normal pos Kohler et al. J Clin
Insertion LBD sister heterozygous Endocrinol Metab 90:
3427 c.2312_2313 3427_3428 delins
AA mother som mosaic ? 106-111, 2005
0171 PAIS Substitut. 5 772 2314 p.(Asn772 His) Female Ambiguous Hiort et al. Hum Mol
LBD Genet
3429 c.2314A 3429A >C
3: 1163-1166 1994
0526 PAIS Substitut. 5 * 772 2314 p.(Asn772 His) high Size & level of Female Ambiguous Zhu et al, 83rd US
LBD expression of AR Endo Soc Meeting,
3429 c.2314A 3429A >C
normal Abstr P2-34, 2001
0173 PAIS Substitut. 5 773 2318 p.(Glu773 Gly) low high Tincello et al. Clinical
3433 c.2318A 3433A >G
-506, 1997
0174 PAIS Substitut. 5 * 773 2318 p.(Glu773 Ala) 25 23 normal normal high Male Ambiguous Shkolny et al. J Clin
3433 c.2318A 3433A >C
805-810, 1999
0172 CAIS Substitut. 5 773 2317 p.(Glu773 *) zero Female Normal Imasaki et al. Endocrine
LBD Journal 42: 643-648
3432 c.2317G 3432G >T
1995
0839 CAIS Deletion 5 773 2317 p.(Glu773 fs) 4 nt deletion leading Female Normal Jeske et al. J Pediatr
LBD to stop in codon 788 Endocrinol Metab 20:
3432 c.2317_2320 3432_3435 delGA
TG 893-908, 2007
0336 CAIS Substitut. 6 ** 775 2323 p.(Arg775 Cys) 26 23 normal normal Female Normal Prior et al. Am J Hum
LBD Genet 51: 143, 1992
3438 c.2323C 3438C >T
0176 CAIS Substitut. 6 ** 775 2323 p.(Arg775 Cys) 27 19 zero Female Normal pos Prior et al. Am J Hum
LBD Genet 51: 143, 1992
3438 c.2323C 3438C >T
0177 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) zero Female Normal Mebarki et al. 72nd US
3438 c.2323C 3438C >T
Abstr 791, 1990
0178 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Female Normal Hiort et al. J Pediatrics
LBD 132: 939-943, 1998
3438 c.2323C 3438C >T
0179 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) v low high Female Normal neg Marcelli et al. J Clin
3438 c.2323C 3438C >T
318, 1991
0180 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Female Normal Jakubiczka et al.
LBD Human Mutation 9: 57
3438 c.2323C 3438C >T
-61, 1997
0331 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Female Normal Komori et al. Arch
LBD Gynecol & Obstetrics
3438 c.2323C 3438C >T
261: 95-100, 1998
0175 CAIS Substitut. 6 ** 775 2323 p.(Arg775 Cys) v low Female Normal Brown et al. Mol
3438 c.2323C 3438C >T
1990
0355 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) mosaic-de novo Female Normal neg Hiort et al. J Pediatrics
LBD mutation 132: 939-943, 1998
3438 c.2323C 3438C >T
0589 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Reduced Female Normal Avila et al. J Clin
3438 c.2323C 3438C >T
182-188, 2002
0599 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Female Normal Scheiber et al. J
LBD Pedatric Endocrinol &
3438 c.2323C 3438C >T
Metab. 16: 367-373,
0731 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) sister affected Female Normal pos Ledig et al: Horm Res
LBD 63: 263-269, 2005
3439 c.2324G 3439G >A
0732 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) mother heterozygous Female Normal pos Ledig et al: Horm Res
LBD 63: 263-269, 2005
3439 c.2324G 3439G >A
0182 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) low normal * Female Normal Batch et al. Hum Mol
LBD Genet, 1: 497, 1992
3439 c.2324G 3439G >A
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0183 CAIS Substitut. 6 ** 775 2324 p.(Arg775 His) v low high Female Normal DeBellis et al. Mol
3439 c.2324G 3439G >A
1992
0184 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) Female Normal Hiort et al. Am J Med
LBD Genet. 63. 218-222,
3439 c.2324G 3439G >A
1996
0461 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) zero Female Normal Ahmed et al. J Clin
3439 c.2324G 3439G >A
658-665, 2000
0462 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) Female Normal Ahmed et al. J Clin
3439 c.2324G 3439G >A
658-665, 2000
0181 CAIS Substitut. 6 ** 775 2324 p.(Arg775 His) normal high high * mutation found in two Female Normal pos Prior et al. Am J Hum
LBD unrelated families genet, 51: 143, 1992
3439 c.2324G 3439G >A
0863 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Prenat diagnosis Female Normal Cheikhelard et al. J
LBD bilateral gonadectomy Urol 180: 1496-1501,
3438 c.2323C 3438C >T
at 5yrs 2008
0878 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) Female Normal pos Qin et al. Zhonghua Fu
LBD Chan Ke Za Za 43: 828
3438 c.2323C 3438C >T
-830, 2008
0986 CAIS Substitut. 6 * 775 2323 p.(Arg775 Cys) 27 17 Female Normal neg Audi et al. J Clin
3438 c.2323C 3438C >T
1876-1888, 2010
0987 CAIS Substitut. 6 * 775 2324 p.(Arg775 His) 20 17 Female Normal neg Audi et al. J Clin
3439 c.2324G 3439G >A
1876-1888, 2010
0185 PAIS Substitut. 6 * 775 2324 p.(Arg775 His) Quigley et al. Endocrin
LBD Reviews 16: 271, 1995
3439 c.2324G 3439G >A
0186 CAIS Substitut. 6 * 780 2338 p.(Arg780 Trp) Female Normal Hiort et al. Hum Mol
LBD Genet
3453 c.2338C 3453C >T
3: 1163-1166 1994
0187 CAIS Substitut. 6 ** 780 2338 p.(Arg780 Trp) Female Normal Morono et al. Human
3453 c.2338C 3453C >T
1995
0188 CAIS Substitut. 6 * 780 2338 p.(Arg780 Trp) Female Normal Sinnecker et al. Eur J.
LBD Pediatr. 156: 7-14, 1997
3453 c.2338C 3453C >T
0463 CAIS Substitut. 6 * 780 2338 p.(Arg780 Trp) Female Normal Ahmed et al. J Clin
3453 c.2338C 3453C >T
658-665, 2000
0621 CAIS Substitut. 6 * 780 2338 p.(Arg780 Trp) 21 low AR partially purified Female Normal MacLean et al. Hum
LBD appears truncated (43 Mutat. 23: 287, 2004
3453 c.2338C 3453C >T
kD)
0638 CAIS Substitut. 6 * 780 2338 p.(Arg780 Trp) 24 Testis located in Female Normal neg Melo et al. J Clin
LBD inguinal region Endorinol & Metab 88:
3453 c.2338C 3453C >T
3241-3250, 2003
0733 CAIS Substitut. 6 * 780 2338 p.(Arg780 Trp Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3453 c.2338C 3453C >T
0189 PAIS Substitut. 6 * 781 2343 p.(Met781 Ile) normal high * Female Ambiguous Bevan et al. Hum Mol
LBD Genet, 5: 265-273, 1996
3458 c.2343G 3458G >A
0190 PAIS Substitut. 6 781 2343 p.(Met781 Ile) 20 23 normal high high 1 family member - Female Ambiguous pos Pinsky et al. Clin Inv
LBD male. Rest of family - / Male Med, 15: 456, 1992
3458 c.2343G 3458G >A
females
0191 PAIS Substitut. 6 781 2343 p.(Met781 Ile) Brinkmann et al. J
3458 c.2343G 3458G >A
Biol 53: 443, 1995
0192 PAIS Substitut. 6 781 2343 p.(Met781 Ile) A brother to mutation Male Ambiguous pos Rodien et al. J Clin
LBD 0305 Endo & Metab 81: 2904
3458 c.2343G 3458G >A
-2908, 1996
0305 CAIS Substitut. 6 781 2343 p.(Met781 Ile) 2 sisters to mutation Female Normal pos Rodien et al. J Clin
LBD 0192 Endo & Metab 81: 2904
3458 c.2343G 3458G >A
-2908, 1996
0193 CAIS Substitut. 6 781 2343 p.(Met781 Ile) Female Normal Jakubiczka et al.
3458 c.2343G 3458G >A
-61, 1997
0464 CAIS Substitut. 6 781 2343 p.(Met781 Ile) low high Epididymis & Vas Female Normal pos Hannema et al. J Clin
LBD deferens present - Endocrinol Metab 89:
3458 c.2343G 3458G >A
Cousin 660 5815-5822, 2004
0660 CAIS Substitut. 6 781 2343 p.(Met781 Ile) Epididymis & Vas Female Normal pos Hannema et al. J Clin
3458 c.2343G 3458G >A
-Cousin 464 5815-5822, 2004
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0682 PAIS Substitut. 6 781 2343 p.(Met781 Ile) Ambiguous Bouvattier et al: J Clin
LBD Endorinol & Metab 87:
3458 c.2343G 3458G >A
29-32, 2002
0743 PAIS Substitut. 6 781 2343 p.(Met781 Ile) 2 affected siblings Female Ambiguous pos Boehmer et al. J Clin
3458 c.2343G 3458G >A
4151-4160, 2001
0774 MAIS Substitut. 6 781 2343 p.(Met781 Ile) Male infertility Male Normal Ferlin et al. Clin
3458 c.2343G 3458G >A
-610, 2006
0988 CAIS Substitut. 6 782 2344 p.(Tyr782 Asp 20 18 low high Mother & sister Female Normal pos Audi et al. J Clin
LBD ) heterozygotes, 2 aunts Endocrinol Metab 95:
3459 c.2344T 3459T >G
wt 1876-1888, 2010
0194 Prostate Substitut. 6 783 2348 p.(Ser783 Asn Somatic mutation Male Normal Tilley et al. 2: Clinical
cancer LBD ) Cancer Res. 2: 277-
3463 c.2348G 3463G >A
285, 1996
0383 CAIS Substitut. 6 * 785 2354 p.(Cys785 Tyr) zero No transactivation Female Normal Giwercman et al.
LBD capacity Human Genetics 103:
3469 c.2348G 3469G >A
529-531, 1998
0864 CAIS Substitut. 6 785 2354 p.(Cys785 Tyr) Diagnosis & bilateral Female Normal Cheikhelard et al. J
3469 c.2348G 3469G >A
2008
0667 CAIS Deletion 6 786 2356 p.(Val786 fs) Somatic mosaicism Female Normal Kohler et al. J Clin
LBD 3471_3472 delG 2 nt del causing fs & Endocrinol Metab 90:
3471 c.2356_2357
T stop at codon 828 106-111, 2005
0989 CAIS Deletion 6 786 2356 p.(Val786 fs) 19 18 zero zero 2 nt del causing fs & Female Normal neg Audi et al. J Clin
LBD stop at codon 828 Endocrinol Metab 95:
3471 c.2356_2357 3471_3472 delG
T 1876-1888, 2010
0195 CAIS Substitut. 6 * 787 2359 p.(Arg787 *) zero Female Normal Pinsky et al. Clin Inv
LBD >T Med, 15: 456-472, 1992
3474 c.2359C 3474C
0557 CAIS Substitut. 6 * 787 2359 p.(Arg787 *) Female Normal Ignaccack et al. J Appl
LBD Genet 43: 109-114,
3474 c.2359C 3474C >T
2002
0600 CAIS Substitut. 6 * 787 2359 p.(Arg787 *) Female Normal Scheiber et al. J
LBD Pedatric Endocr Metab
3474 c.2359C 3474C >T
16: 367-373, 2003
0892 Prostate Substitut. 6 * 787 2359 p.(Arg787 *) Also p.(Q86del, Male Normal Steinkamp et al. Cancer
Cancer LBD Q867*. Not treated Res 69: 4434-4442,
3474 c.2359C 3474C >T
2009
0939 Prostate Substitut. 6 * 787 2359 p.(Arg787 *) Untreated with anti- Male Normal Steinkamp et al. Cancer
Cancer LBD androgens Res 69: 4434-4442,
3474 c.2359C 3474C >T
2009
0196 CAIS Substitut. 6 * 788 2362 p.(Met788 Val) zero Female Normal pos Nakao et al. J Clin
LBD Endocrinol Metab, 74:
3477 c.2362A 3477A >G
1152, 1992
0615 CAIS Substitut. 6 788 2362 p.(Met788 Val) Uterus present Female Normal Van et al. Eur J.
LBD Pediatr. 162: 781-784,
3477 c.2362A 3477A >G
2003
0990 CAIS Substitut. 6 788 2364 p.(Met788 Ile) 23 18 Female Normal neg Audi et al. J Clin
3479 c.2364G 3479G >A
1876-1888, 2010
0991 CAIS Substitut. 6 788 2364 p.(Met788 Ile) 23 17 1 sister affected Female Normal pos Audi et al. J Clin
3479 c.2364G 3479G >A
1876-1888, 2010
0992 CAIS Substitut. 6 788 2364 p.(Met788 Ile) 26 17 Female Normal neg Audi et al. J Clin
3479 c.2364G 3479G >T
1876-1888, 2010
0406 MAIS Substitut. 6 789 2367 p.(Arg789 Ser) 24 23 normal normal high * Gynecomastia -high Male Normal pos Lumbroso et al 81st. US
LBD pitched voice- Endo Soc Meetings
3482 c.2367G 3482G >T
decreased body hair Abstr. P3-288, 1999
0716 PAIS Substitut. 6 789 2367 p.(Arg789 Ser) high Male Ambiguous Deeb et al. Clinical
3482 c.2367G 3482G >T
-62, 2005
0735 CAIS Duplicat 6 789 2365 p.(Arg789 dup) p.(Arg789) duplicated Male Normal neg Ledig et al. Horm Res
LBD 63: 263-269, 2005
3480 c.2365_2367 3480_3482 dupA
GG
0197 MAIS Substitut. 6 * 791 2371 p.(Leu791 Phe) normal low * Male Near-normal Tsukada et al: J Clin
LBD male Endocrinol
3486 c.2371C 3486C >T
Metab, 79: 1202, 1994
0842 CAIS Substitut. 6 791 2372 p.(Leu791 Pro) Female Normal Raicu et al. Asian J
LBD Androl 10: 687-91,
3487 c.2372T 3487T >C
2008
0993 CAIS Deletion 6 793 2378 p.(Gln793 fs) 20 17 Heterozygous sister Female Normal pos Audi et al. J Clin
LBD 3493_3494 delA 2nt del causing fs & Endocrinol Metab 95:
3493 c.2378_2379
A stop in Codon 828 1876-1888, 2010
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0198 MAIS Substitut. 6 794 2382 p.(Glu794 Asp) normal normal Inconsistent increases Male Normal Pinsky et al. Clin Inv
LBD in gynocomastia & Med, 15: 456, 1992
3497 c.2382G 3497G >C
infertility
0397 Normal Substitut. 6 794 2382 p.(Glu794 Asp) Homsosexual Male Normal Macke et al. Am J
LBD individual Human Genetics 53:
3497 c.2382G 3497G >C
844-852, 1993
0199 CAIS Substitut. 6 795 2384 p.(Phe795 Ser) zero Female Normal Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3499 c.2384T 3499T >C
1996
0200 CAIS Substitut. 6 795 2384 p.(Phe795 Ser) Female Normal Jakubiczka et al Human
3499 c.2384T 3499T >C
1997
0907 PAIS Substitut. 6 796 2388 p.(Gly796 Gly) low high Silent mutation Male Ambiguous Appari et al. J Mol Med
LBD 87: 623-632, 2009
3503 c.2388A 3503A >G
0201 CAIS Substitut. 6 * 797 2391 p.(Trp797 *) v low Female Normal Marcelli at al. J Clin
LBD Invest 85: 1522-1528,
3506 c.2391G 3506G >A
1990
0202 PAIS Substitut. 6 * 799 2395 p.(Gln799 Glu) normal normal * Female Ambiguous Bevan et al. Hum Mol
LBD Genet, 5: 265-273,
3510 c.2395C 3510C >G
1996
0203 PAIS Substitut. 6 799 2395 p.(Gln799 Glu) normal normal Quigley et al.
LBD Endocrine
3510 c.2395C 3510C >G
Reviews 16: 271, 1995
0204 PAIS Substitut. 6 799 2395 p.(Gln799 Glu) Female Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3510 c.2395C 3510C >G
1996
0205 Prostate Substitut. 6 799 2395 p.(Gln799 Glu) Also present in Male Normal Evans et al. Prostate
cancer LBD genomic DNA 28: 162-171, 1996
3510 c.2395C 3510C >G
0399 Prostate Substitut. 6 799 2395 p.(Gln799 Glu) Somatic mutation Male Normal Castagnaro et al. Verh.
cancer LBD Stage 4 tumor Dtsch. Ges. Path. 77.
3510 c.2395C 3510C >G
119-123, 1993
0340 MAIS Substitut. 6 * 799 2395 p.(Gln799 Glu) normal Azospermia Male Normal Hiort et al. J Clin
3510 c.2395C 3510C >G
2810-2815, 2000
0381 MAIS Substitut. 6 * 799 2395 p.(Gln799 Glu) normal Azoospermia - Male Normal Wang et al. J Clin
LBD defective Endocrinol Metab 83:
3510 c.2395C 3510C >G
transactivation 4303-4309, 1998
0775 MAIS Substitut. 6 799 2395 p.(Gln799 Glu) Male infertility Male Normal Ferlin et al. Clin
3510 c.2395C 3510C >G
-610, 2006
0954 PAIS Substitut. 6 * 799 2395 p.(Gln799 Glu) Virilization post- Female Ambiguous Idkowiak et al. J Clin
LBD gonadectomy heteroz Endocrinol Metab 95:
3510 c.2395C 3510C >G
P450 (POR) p.Y601C 3418-3527, 2010
1041 PAIS Substitut. 6 * 799 2395 p.(Gln799 Glu) External Male Ambiguous Hellmann et al. Arch
3510 c.2395C 3510C >G
=8 2012
0648 CAIS Substitut. 6 799 2395 p.(Gln799 *) Abdominal tumor - Female Normal Ignacek et al: Gynecol
LBD Sertoli cell adenoma Endorinol 19: 178-181,
3510 c.2395C 3510C >T
2004
0764 Prostate Substitut. 6 800 2399 p.(Ile800 Thr) patient lower Gleason Male Normal Sanchez et al. BJU Int
3514 c.2399T 3514T >C
AR- som mutation
0596 PAIS Substitut. 6 801 2402 p.(Thr801 Ile) Variable expressity- Male Ambiguous pos Galli-Tsinopoulou et al.
LBD four additional males J Pediatr Endocrinol
3517 c.2402C 3517C >T
with MAIS Metab16: 149-154,
0542 CAIS Deletion 6 801 2403 p.(Thr801 fs) Single nt del causing Female Normal pos Boehmer et al. J Clin
LBD frameshift & stop in Endocrinol Metab 86:
3518 c.2403 3518 delC
codon 808 1 affect sib 4151-4160, 2001
1055 CAIS Deletion 6 801 2403 p.(Thr801 fs) Single nt del causing Female Normal pos Vasu et al. Genet Test
LBD frameshift & stop in Mol Biomarkers 16:749
3518 c.2403 3518 delC
codon 808 1 affect sib -755, 2012
0521 PAIS Substitut. 6 803 2408 p.(Gln803 Arg) Chavez et al. Clin
LBD Genet 59: : 185-188,
3523 c.2408A 3523A >G
2001
0498 CAIS Substitut. 6 804 2410 p.(Glu804 Lys) zero zero Female Normal pos Sawai et al. J Hum
LBD Genet 45: 342-345,
3525 c.2410G 3525G >A
2000
0563 CAIS Substitut. 6 805 2413 p.(Phe805 Leu) de novo mutation. + Female Normal neg Gad et al. Clin Genet.
LBD glaucoma & hyper- 63: 59-63, 2003
3528 c.2413T 3528T >C
trophic pyloric stenos
0865 CAIS Substitut. 6 805 2413 p.(Phe805 Ile) Diagnosis at 1mo Female Normal Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3528 c.2413T 3528T >A
2008
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0206 PAIS Substitut. 6 807 2420 p.(Cys807 Tyr) Brown et al. Eur J
LBD Pediatr 152: (Suppl 2)
3535 c.2420G 3535G >A
S62, 1993
0207 CAIS Substitut. 6 * 808 2422 p.(Met808 Val) low Female Normal Morono et al. Human
3537 c.2422A 3537A >G
1995
0639 CAIS Substitut. 6 808 2422 p.(Met808 Val) 30 low Testis located in Female Normal neg Melo et al. J Clin
LBD inguinal region Endorinol & Metab 88:
3537 c.2422A 3537A >G
3241-3250, 2003
0428 PAIS Substitut. 6 * 808 2423 p.(Met808 Thr) low Treatment with Female Ambiguous Ong et al. Lancet 354:
LBD topical DHT restored 1444-1445, 1999
3538 c.2423T 3538T >C
male genital
0208 CAIS Substitut. 6 808 2423 p.(Met808 Arg) zero Female Normal Adeyemo et al. Hum
LBD Mol Genet, 2: 1809,
3538 c.2423T 3538T >G
1993
1093 CAIS Substitut. 6 809 2425 p.Lys809 Gln) Female Normal Hughes et al. Semin
3540 c.2425A 3540A >C
-442, 2012
0403 PAIS Substitut. 6 813 2437 p.(Leu813 Phe) Female Normal Yaegashi et al. Tohoku
3552 c.2437C 3552C >T
-272, 1999
0799 CAIS Substitut. 6 * 813 2438 p.(Leu813 Pro) zero Severely impaired Female Normal Jaaskelainen et al. Hum
LBD AR transactivation Mutat 27: 291, 2006
3553 c.2438T 3553T >C
0209 PAIS Substitut. 6 815 2444 p.(Ser815 Asn 20 normal Hormone binding Female Ambiguous Pinsky et al. Clin Inv
LBD ) specificity alterted. Med, 15: 456, 1992
3559 c.2444G 3559G >A
0210 MAIS Substitut. 6 815 2444 p.(Ser815 Asn 20 normal Hormone binding Male Normal pos Pinsky et al. Clin Inv
LBD ) specificity altered Med, 15: 456, 1992
3559 c.2444G 3559G >A
0685 PAIS Substitut. 7 818 2452 p.(Pro818 Ala) normal high Mother a carrier Male Ambiguous pos Lumbroso et al. J Mol
3567 c.2452C 3567C >G
-687, 2004
0811 CAIS Substitut. 7 818 2453 p.(Pro818 Leu) Two sisters with Female Normal pos Turek-Plewa et al. Hum
LBD CAIS mother a carrier Genet 119: 361, 2006
3568 c.2453C 3568C >T
0501 CAIS Substitut. 7 820 2459 p.(Asp820 Gln) Also 3578Gdel Female Normal Choi et al. Arch
LBD causing frameshift & Gynecol Obstet 263:
3574 c.2459A 3574A >G
stop in codon 821 201-205, 2000
0211 CAIS Substitut. 7 * 821 2462 p.(Gly821 Ala) normal high * Also Leu263Pro, Female Ambiguous neg Tanaka et al.
LBD enhances Gynecological Endo.
3577 c.2462G 3577G >C
thermolability 12: 75-82, 1998
0212 PAIS Substitut. 7 822 2464 p.(Leu822 Val) 24 23 normal normal Pinsky et al. Clin Inv
LBD Med, 15: 456, 1992
3579 c.2464C 3579C >G
0776 MAIS Substitut. 7 822 2464 p.(Leu822 Val) Male infertility Male Normal Ferlin et al. Clin
3579 c.2464C 3579C >G
-610, 2006
0513 MAIS Substitut. 7 * 825 2473 p.(Gln825 Lys) Gynocomastia-norm Male Normal pos Giwercman et al. J Clin
LBD fert -related to 514 Endocrinol Metab 85:
3588 c.2473C 3588C >A
abnormal Bmax DHT 2253-2259, 2000
0514 MAIS Substitut. 7 * 825 2473 p.(Gln825 Lys) Gynocomastia-norm Male Normal pos Giwercman et al. J Clin
LBD fert -related to 513 Endocrinol Metab 85:
3588 c.2473C 3588C >A
abnormal Bmax DHT 2253-2259, 2000
1041 PAIS Substitut. 7 * 825 2473 p.(Gln825 Lys) External Male Ambiguous Hellmann et al. Arch
3588 c.2473C 3588C >A
= 12 2012
1042 PAIS Substitut. 7 * 825 2473 p.(Gln825 Lys) External Male Ambiguous pos Hellmann et al. Arch
3588 c.2473C 3588C >A
= 12 2012
3588 c.2473C 3588C >A
= 12 2012
3588 c.2473C 3588C >A
= 12 2012
3588 c.2473C 3588C >A
=12-brother has PAIS 2012
3588 c.2473C 3588C >A
= 10, cousins PAIS 2012
3588 c.2473C 3588C >A
= 12, cousins PAIS 2012
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0875 PAIS Substitut. 7 * 827 2481 p.(Phe827 Leu) 22 17 normal Increased N/C Male Ambiguous pos Wong et al. Mol Cell
LBD terminal interaction & Endocrinol 292: 69-78,
3596 c.2481C 3596C >A
TIF2 co-activation 2008
0537 CAIS Substitut. 7 828 2482 p.(Phe828 Val) Female Normal Chavez et al. J Hum
LBD Genet. 46: 560-565,
3597 c.2482T 3597T >G
2001
1094 CAIS Substitut. 7 828 2483 p.(Phe828 Ser) Female Normal Hughes et al. Semin
3598 c.2483T 3598T >C
-442, 2012
0622 CAIS Insertion 7 830 2478 p.(Glu830 fs) 18 2nt insertion causing Female Normal pos MacLean et al. Hum
LBD frameshift and stop in Mutat. 23: 287, 2004
3593 c.2478_2479 3603_3604 insC
A Codon 834
0522 CAIS Substitut. 7 831 2491 p.(Leu831 Val) Female Normal Chavez et al. Clin
LBD Genet 59: : 185-188,
3606 c.2494C 3606C >G
2001
0213 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) zero Female Normal pos DeBellis et al. Mol
3609 c.2494C 3609C >T
1992
0214 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) zero Female Normal Tincello et al. J
LBD Endocrinol, 132 Suppl,
3609 c.2494C 3609C >T
Abstr 87, 1992
0215 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) zero Female Normal Ris-Stalpers et al. 74th
3609 c.2494C 3609C >T
1992
0384 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) Female Normal Giwercman et al.
LBD Human Genetics 103:
3609 c.2494C 3609C >T
529-531, 1998
0465 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) Wolffian remnants Female Normal Hannema et al. J Clin
3609 c.2494C 3609C >T
5815-5822, 2004
0500 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) Female Normal Choi et al. Arch
LBD Gynecol Obstet 263:
3609 c.2494C 3609C >T
201-205, 2000
0515 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) Harmatoma found in Female Normal Chen et al. Fertilty &
LBD pubertal patient Sterility 74: 182-183,
3609 c.2494C 3609C >T
2000
0466 CAIS Substitut. 7 * 832 2495 p.(Arg832 Gln) Female Normal Ahmed et al. J Clin
3610 c.2495G 3610G >A
658-665, 2000
0499 CAIS Substitut. 7 * 832 2495 p.(Arg832 Gln) Female Normal Choi et al. Arch
LBD Gynecol Obstet 263:
3610 c.2495G 3610G >A
201-205, 2000
0814 CAIS Substitut. 7 * 832 2495 p.(Arg832 Gln) "hamatomatous Female Normal Goulis et al. Hirmines
LBD testes" present (Athens) 5: 200-204,
3610 c.2495G 3610G >A
2006
0216 CAIS Substitut. 7 ** 832 2495 p.(Arg832 Gln) v low Female Normal pos Brown et al. Mol
3610 c.2495G 3610G >A
1990
0217 CAIS Substitut. 7 * 832 2495 p.(Arg832 Gln) zero Found in two Female Normal McPhaul et al. J Clin
LBD unrelated families Inv, 90: 2097, 1992
3610 c.2495G 3610G >A
0404 CAIS Substitut. 7 832 2495 p.(Arg832 Gln) zero Female Normal Yaegashi et al. Tohoku
3610 c.2495G 3610G >A
-272, 1999
0524 CAIS Substitut. 7 832 2495 p.(Arg832 Gln) zero Sertoli cell carcinoma Female Normal Ko et al. Int. J.
LBD Gynocol. Pathol. 20:
3610 c.2495G 3610G >A
196-199, 2001
0994 CAIS Substitut. 7 832 2495 p.(Arg832 Gln) 23 17 Mother heterozygous Female Normal Audi et al. J Clin
3610 c.2495G 3610G >A
1876-1888, 2010
0218 CAIS Substitut. 7 * 832 2495 p.(Arg832 Leu) 21 19 zero Female Normal Shkolny et al. Human
LBD Mol Genetics 4: 515
3610 c.2495G 3610G >T
-521,1995
0307 CAIS Substitut. 7 * 832 2495 p.(Arg832 Leu) 26 16 zero Female Normal Shkolny et al. Human
LBD Mol Genetics 4: 515
3610 c.2495G 3610G >T
-521,1995
0590 CAIS Substitut. 7 * 832 2495 p.(Arg832 Leu) Reduced Female Normal Avila et al. J Clin
3610 c.2495G 3610G >T
182-188, 2002
0995 CAIS Substitut. 7 * 832 2494 p.(Arg832 *) 19 18 Female Normal neg Audi et al. J Clin
3609 c.2494C 3609C >T
1876-1888, 2010
1095 CAIS Substitut. 7 p.(Met833 *) Female Normal Hughes et al. Semin
-442, 2012
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0996 CAIS Deletion 7 834 2500 p.(Asn834 del) 19 18 Female Normal neg Audi et al. J Clin
3615 c.2500_2502 3615_3617 delA
AC 1876-1888, 2010
0219 CAIS Substitut. 7 835 2504 p.(Tyr835 Cys) zero Female Normal Wilson et al. J Clin
3619 c.2504A 3619A >G
1474-8, 1992
0392 PAIS Substitut. 7 839 2517 p.(Leu839 ) Hypospadia and Male Ambiguous Nordenskjold et al
LBD cryptorchidism - Urological Res, 27: 49
3632 c.2517C 3632C >T
silent mutation -55, 1999
0765 Prostate Substitut. 7 839 2517 p.(Leu839 ) patient lower Gleason Male Normal Sanchez et al. BJU Int
3632 c.2517C 3632C >T
AR- som mutation
0997 CAIS Substitut. 7 839 2515 p.(Leu839 Val) 8 17 Female Normal neg Audi et al. J Clin
3630 c.2515C 3630C >G
1876-1888, 2010
1038 PAIS Substitut. 7 839 2515 p.(Leu839 Phe External Male Ambiguous Hellmann et al. Arch
3630 c.2515C 3630C >T
=6 2012
0220 PAIS Substitut. 7 ** 841 2521 p.(Arg841 Cys) 20 16 normal high norm * Male Ambiguous pos Beitel et al. J Clin Inv,
LBD 94: 546-554 1994
3636 c.2521C 3636C >T
0221 PAIS Substitut. 7 ** 841 2521 p.(Arg841 Cys) low high * Found in two Female McPhaul et al. J Clin
LBD unrelated individuals. Inv, 90: 2097, 1992
3636 c.2521C 3636C >T
0222 PAIS Substitut. 7 ** 841 2521 p.(Arg841 Cys) normal high Sibling of 0308 Female Ambiguous pos Bevan et al. Hum Mol
LBD Genet, 5: 265-273, 1996
3636 c.2521C 3636C >T
0308 PAIS Substitut. 7 ** 841 2521 p.(Arg841 Cys) normal high Sibling of 0222 Male Ambiguous pos Bevan et al. Hum Mol
LBD Genet, 5: 265-273, 1996
3636 c.2521C 3636C >T
0387 PAIS Substitut. 7 ** 841 2521 p.(Arg841 Cys) Transcriptional Georget et al. J Clin
LBD activity only at high Endocrinol Metab 83:
3636 c.2521C 3636C >T
conc of androgen 3597-3603, 1998
0698 PAIS Substitut. 7 ** 841 2521 p.(Arg841 Cys) normal low Family member of Male Ambiguous pos Wang et al. Biochem
LBD 0699 & 0700 with Biophs Res Comm 335:
3636 c.2521C 3636C >T
phenotypic varaiation 335-342, 2005
LBD 0698 & 0700 with Biophs Res Comm 335:
3636 c.2521C 3636C >T
LBD 0698 & 0699 with , Biophs Res Comm 335:
3636 c.2521C 3636C >T
0734 PAIS Substitut. 7 * 841 2521 p.(Arg841 Cys) brother affected, Male Ambiguous pos Ledig et al: Horm Res
LBD sister heterozygous 63: 263-269, 2005
3636 c.2521C 3636C >T
0385 PAIS Substitut. 7 * 841 2521 p.(Arg841 Gly) low Reduced Giwercman et al.
LBD transactivation Human Genetics 103:
3636 c.2521C 3636C >G
529-531, 1998
0818 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) Male Ambiguous Yen et al. Acta Paediatr
LBD Taiwan 46: 101-105,
3637 c.2522G 3637G >A
2005
0683 CAIS Substitut. 7 * 841 2522 p.(Arg841 His) bilateral inguinal Female Normal Bouvattier et al: J Clin
3637 c.2522G 3637G >A
29-32, 2002
0820 CAIS Substitut. 7 * 841 2522 p.(Arg841 His) Female Normal Wang et al. Yi Chuan
LBD Xue Bao 33: 19-25,
3637 c.2522G 3637G >A
2006
0337 PAIS Substitut. 7 ** 841 2522 p.(Arg841 His) 19 normal high high * Female Ambiguous pos Beitel et al. J Clin Inv,
LBD 94: 546-554 1994
3637 c.2522G 3637G >A
0224 PAIS Substitut. 7 ** 841 2522 p.(Arg841 His) 18 24 normal high high * Female Ambiguous pos Beitel et al. J Clin Inv,
LBD 94: 546-554 1994
3637 c.2522G 3637G >A
0225 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) high Found in two Female Ambiguous pos Hiort et al. J Clin
LBD unrelated families in 1 Endocrinol Metab, 77:
3637 c.2522G 3637G >A
fam 262-266, 1993
0226 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) zero McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3637 c.2522G 3637G >A
0227 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) normal normal * In same fam. persons Female Ambiguous pos Imasaki et al. Eur J
LBD raised as males with Endorinol, 130: 569
3637 c.2522G 3637G >A
ambiguous genitalia -574, 1994
0228 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) low Lumbroso et al. Eur J
LBD Endorinol 130: 327,
3637 c.2522G 3637G >A
1994
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0229 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) low Imai et al. Annals of
LBD Clinical Biochem, 32:
3637 c.2522G 3637G >A
482-486, 1995
0230 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) Ghirri & Brown.
LBD Pediatr Res 33:
3637 c.2522G 3637G >A
Abstr.95, 1993
0231 PAIS Substitut. 7 ** 841 2522 p.(Arg841 His) low high high Marcelli et al. J Clin
LBD Invest 94: 1642-1650,
3637 c.2522G 3637G >A
1994
0232 PAIS Substitut. 7 ** 841 2522 p.(Arg841 His) normal high * Female Ambiguous pos Weidemann et al. Clin
3637 c.2522G 3637G >A
-
0223 PAIS Substitut. 7 ** 841 2522 p.(Arg841 His) low high Female Ambiguous De Bellis et al. J Clin
LBD Endrcrinol Metab, 78:
3637 c.2522G 3637G >A
513, 1994
0668 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) Somatic mosaicism Male Ambiguous Kohler et al. J Clin
3637 c.2522G 3637G >A
106-111, 2005
0415 PAIS Substitut. 7 841 2521 p.(Arg841 Ser) 25 Testis located in Male Ambiguous Melo et al. J Clin
LBD inguinal region. same Endorinol & Metab 88:
3636 c.2521C 3636C >A
family as 0832 3241-3250, 2003
0626 PAIS Substitut. 7 841 2521 p.(Arg841 Ser) Diagnosis at 6.5 yr. Female Ambiguous Mazen et al. J
LBD Reassigned as male Endocrinol Invest. 27:
3636 c.2521C 3636C >A
after testosterone 57-60, 2004
0832 PAIS Substitut. 7 841 2521 p.(Arg841 Ser) Testis located in Male Ambiguous Melo et al. Arq Bras
LBD inguinal region. same Endocrinol Metab 49:
3636 c.2521C 3636C >A
family as 0415 87-97, 2005
1008 PAIS Substitut. 7 * 841 2522 p.(Arg841 His) 23 11 1 affected niece Female Ambiguous pos Audi et al. J Clin
3637 c.2522G 3637G >A
1876-1888, 2010
0233 PAIS Substitut. 7 842 2525 p.(Ile842 Ser) low high Female Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3640 c.2525T 3640T >G
1996
0234 CAIS Substitut. 7 843 2528 p.(Ile843 Thr) normal high Female Normal pos Hiort et al. J Clin
3643 c.2528T 3643T >C
262-266, 1993
0235 PAIS Substitut. 7 * 843 2528 p.(Ile843 Thr) low high * Male Ambiguous pos Weidemann et al Clin
LBD Endocrinlogy 45: 733 -
3643 c.2528T 3643T >C
739, 1996
0591 CAIS Substitut. 7 843 2528 p.(Ile843 Asn Normal Female Normal Avila et al. J Clin
LBD ) immunoreactive AR Endocrinol Metab 87.
3643 c.2528T 3643T >A
182-188, 2002
0736 PAIS Substitut. 7 844 2531 p.(Ala844 Glu) de novo mutation Male Ambiguous neg Ledig et al. Horm Res
LBD 63: 263-269, 2005
3646 c.2531C 3646C >A
0494 Prostate Substitut. 7 847 2539 p.(Arg847 Gly) Somatic mutation Male Normal Marcelli et al. Cancer
cancer LBD Research 60: 944-949,
3654 c.2539A 3654A >G
2000
0236 CAIS Insertion 7 849 2546 p.(Asn849 fs) zero 1 nt insert frameshift Female Normal Brinkmann et al. J
LBD & stop in codon 880 Steroid Biochem Mol
3661 c.2546_25473661_3662 insA
& loss of 44 AA's Biol 53: 443, 1995
0467 CAIS Insertion 7 849 2546 p.(Asn849 fs) zero 1 nt insert causes Female Normal Ahmed et al. J Clin
LBD frameshift. Endocrinol Metab 85:
3661 c.2546_2547 3661_3662 insA
658-665, 2000
0854 CAIS Insertion 7 849 p.(Asn849 fs) Frameshift & stop in Female Normal Cheikhelard et al. J
LBD Codon 880 Diag & Urol 180: 1496-1501,
bilat gonadect at 7y 2008
0957 CAIS Insertion 7 849 2546 p.(Asn849 fs) 1 nt insert - Female Normal neg Wu et al. Fertility &
LBD frameshift & stop in Sterility 93: 2076, e1-4,
3661 c.2546_2547 3661_3662 insA
Codon 880 2010
1096 CAIS Substitut. 7 849 2548 p.(Asn Lys) Female Normal Hughes et al. Semin
3663 c.2548T 3663T
-442, 2012
0237 CAIS Substitut. 7 854 2561 p.(Ser854 *) zero Female Normal Wilson et al. J Clin
3676 c.2561C 3676C >G
1474-8, 1992
0238 CAIS Substitut. 7 854 2561 p.(Ser854 *) zero Female Normal Jakubiczka et al.
3676 c.2561C 3676C >G
-61, 1997
0793 CAIS Deletion 7 854 2562 p.(Ser854 ) 2 nt deletion Female Normal Mueller et al. Hum
LBD Genet 119: 673, 2006
3677 c.2562_2563 3677_3678 delA
A
0239 PAIS Substitut. 7 855 2564 p.(Arg855 Lys) low * McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3679 c.2564G 3679G >A
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
1056 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) Female Normal Vasu et al. Genet Test
LBD Mol Biomarkers 16:749
3681 c.2566C 3681C >T
-755, 2012
0240 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) zero Female Normal DeBellis et al. Mol
3681 c.2566C 3681C >T
1992
0241 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) Female Normal Tincello et al. J
LBD Endocrinol 132 Suppl,
3681 c.2566C 3681C >T
Abstr 87, 1992
0242 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) zero Female Normal McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3681 c.2566C 3681C >T
0243 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) Female Normal Loboccaro et al. Pediat
LBD Res 33: Abstr 115, 1993
3681 c.2566C 3681C >T
0244 CAIS Substitut. 7 ** 856 2566 p.(Arg856 Cys) low Female Normal pos Morono et al. Human
LBD Mutation 6: 152-162.
3681 c.2566C 3681C >T
1995
0245 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) zero Female Normal Sultan et al. J Steroid
LBD Biochem & Mol Biol:
3681 c.2566C 3681C >T
40
0246 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) Female Normal Brinkmann et al. J
3681 c.2566C 3681C >T
Biol 53: 443, 1995
0247 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) zero Female Normal Hiort et al. Am J Med
LBD Genet. 63: 218-222,
3681 c.2566C 3681C >T
1996
0248 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) v low high Female Normal pos Malmgren et al.Clin
LBD Genet. 50: 202-205,
3681 c.2566C 3681C >T
1996
0320 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) Female Normal Komori et al: J
LBD Obstetrics & Gynocol.
3681 c.2566C 3681C >T
Res. 23: 277-81, 1997
0468 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) zero Female Normal Ahmed et al. J Clin
3681 c.2566C 3681C >T
658-665, 2000
0469 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) normal high Female Normal Ahmed et al. J Clin
3681 c.2566C 3681C >T
658-665, 2000
0527 CAIS Substitut. 7 ** 856 2566 p.(Arg856 Cys) v low high Female Normal Elhaji et al. 83rd US
3681 c.2566C 3681C >T
Abstr P2-37, 2001
0592 CAIS Substitut. 7 ** 856 2566 p.(Arg856 Cys) v low Female Normal Avila et al. J Clin
3681 c.2566C 3681C >T
182-188, 2002
0640 CAIS Substitut. 7 ** 856 2566 p.(Arg856 Cys) 19 zero Testis located in Female Normal pos Melo et al. J Clin
LBD abdomen Same Endorinol & Metab 88:
3681 c.2566C 3681C >T
family as 0833 3241-3250, 2003
0737 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) de novo mutation Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3681 c.2566C 3681C >T
0661 CAIS Substitut. 7 * 856 2567 p.(Arg856 His) Vas deferens present Female Normal Hannema et al. J Clin
3682 c.2567G 3682G >A
5815-5822, 2004
0528 PAIS Substitut. 7 ** 856 2567 p.(Arg856 His) normal high * Male Ambiguous Elhaji et al. 83rd US
3682 c.2567G 3682G >A
Abstr P2-37, 2001
0684 CAIS Substitut. 7 * 856 2567 p.(Arg856 His) bilateral inguinal Female Normal Bouvattier et al: J Clin
3682 c.2567G 3682G >A
29-32, 2002
0688 CAIS Substitut. 7 * 856 2567 p.(Arg856 His) Mother a heterozyote Female Normal Skordis et al. J Pediatr
3682 c.2567G 3682G >A
309-313, 2005
0745 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) sibling of 0746 Male Ambiguous pos Boehmer et al. J Clin
3682 c.2567G 3682G >A
4151-4160, 2001
0746 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) normal high niece of 0745 Female Ambiguous pos Boehmer et al. J Clin
LBD also P392S Endocrinol Metab 86:
3682 c.2567G 3682G >A
4151-4160, 2001
0777 MAIS Substitut. 7 * 856 2567 p.(Arg856 His) Male infertility Male Normal Ferlin et al. Clin
3682 c.2567G 3682G >A
-610, 2006
0641 PAIS Substitut. 7 856 2567 p.(Arg856 His) 19 zero to Testis located in Male Ambiguous neg Melo et al. J Clin
LBD normal inguinal region Endorinol & Metab 88:
3682 c.2567G 3682G >A
3241-3250, 2003
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0716 PAIS Substitut. 7 856 2567 p.(Arg856 His) high Male Ambiguous Deeb et al. Clinical
3682 c.2567G 3682G >A
-62, 2005
0251 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) normal high Chang et al. 73rd Endo
LBD Soc Meeting, Abstr 28,
3682 c.2567G 3682G >A
1991
0252 PAIS Substitut. 7 ** 856 2567 p.(Arg856 His) normal high * Servere hypospadia Male Ambiguous pos Batch et al. Hum Mol
LBD Genet, 1: 497, 1992
3682 c.2567G 3682G >A
0253 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) Male Ambiguous Hiort et al. Am J Med
LBD Genet. 63: 218-222.
3682 c.2567G 3682G >A
1996
0254 PAIS Substitut. 7 ** 856 2567 p.(Arg856 His) zero Female Ambiguous pos Weidemann et al. Clin
3682 c.2567G 3682G >A
-
0255 PAIS Substitut. 7 ** 856 2567 p.(Arg856 His) low high norm Female Ambiguous Marcelli et al. J Clin
LBD Invest, 94: 1642-1650,
3682 c.2567G 3682G >A
1994
0301 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) 14 Brother of 0302 Male Ambiguous pos Boehmer et al. Am J
LBD somatic & germ-line Hum Genetics 60: 1003
3682 c.2567G 3682G >A
muts. in mother -6, 1997
0250 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) zero Female Ambiguous Weidemann et al. Clin
LBD Endorinology 45: 733
3682 c.2567G 3682G >A
-739, 1996
0302 PAIS Substitut. 7 ** 856 2567 p.(Arg856 His) 14 Sister of 0301. Female Ambiguous pos Boehmer et al. Am J
LBD somatic & germ-line Hum Genetics 60: 1003
3682 c.2567G 3682G >A
muts. in mother -6, 1997
0249 CAIS Substitut. 7 * 856 2567 p.(Arg856 His) low Female Normal McPhaul et al. J Clin
LBD Invest. 90: 2097, 1992
3682 c.2567G 3682G >A
0344 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) 28 zero to Sex changed at 1yr Female Ambiguous pos Melo et al. J Clin
LBD normal Male to female - Endorinol & Metab 88:
3682 c.2567G 3682G >A
Same family as 0834 3241-3250, 2003
0833 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) gonads located in Female Normal Melo et al. Arq Bras
LBD abdomen. Same Endocrinol Metab 49:
3681 c.2566C 3681C >T
family as 0604 87-97, 2005
0834 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) Same family as 0344 Male Ambiguous pos Melo et al. Arq Bras
3682 c.2567G 3682G >A
87-97, 2005
0866 CAIS Substitut. 7 * 856 2566 p.(Arg856 Cys) Diagnosis at 3 wks Female Normal Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3681 c.2566C 3681C >T
2008
0998 CAIS Substitut. 7 * 856 2567 p.(Arg856 His) 20 14 1 affected aunt; Female Normal pos Audi et al. J Clin
LBD mother & 2 aunts Endocrinol Metab 95:
3682 c.2567G 3682G >A
heterozygotes 1876-1888, 2010
1009 PAIS Substitut. 7 * 856 2567 p.(Arg856 His) 18 17 1 affected sister, mot Female Ambiguous pos Audi et al. J Clin
LBD & 2 aunts Endocrinol Metab 95:
3682 c.2567G 3682G >A
heterozygote carriers 1876-1888, 2010
0470 CAIS Substitut. 7 857 2571 p.(Phe857 Leu) Female Normal Ahmed et al. J Clin
3686 c.2571C 3686C >G
658-665, 2000
0662 CAIS Substitut. 7 857 2571 p.(Phe857 Leu) Also S866P-twin of Female Normal pos Hannema et al. J Clin
LBD 0663 Endocrinol Metab 89:
3686 c.2571C 3686C >G
5815-5822, 2004
0663 CAIS Substitut. 7 857 2571 p.(Phe857 Leu) Also S866P-twin of Female Normal pos Hannema et al. J Clin
LBD 0662 Endocrinol Metab 89:
3686 c.2571C 3686C >G
5815-5822, 2004
0356 CAIS Substitut. 7 858 p.(Tyr858 *) de novo mutation Female Normal neg Hiort et al. J Pediatrics
LBD 132: 939-943, 1998
0941 CAIS Duplicat. 7 858 2573 p.(Tyr858 *) 1nt duplicatn resulted Female Normal pos Turek-Plewa et al. Hum
LBD in stop codon. Mother Genet 125: 341, 2009
3688 c.2573 3688 dupA
& sister carriers
0753 CAIS Substitut. 7 * 860 2578 p.(Leu860 Phe) v low In silico analysis Female Normal Rajender et al. J
LBD showed effect on Andrology 28: 772-6,
3693 c.2578C 3693C >T
ligand-binding pocket 2007
0867 CAIS Substitut. 7 861 2582 p.(Thr861 Asn) Diagnosis at birth Female Normal Cheikhelard et al. J
3697 c.2582C 3697C >A
at 15yrs 2008
1097 CAIS Substitut. 7 861 2582 p.(Thr861 Ile) Female Normal Hughes et al. Semin
3697 c.2582C 3697C >T
-442, 2012
0256 CAIS Substitut. 7 864 2591 p.(Leu864 Arg Female Normal Brown et al. Eur J
LBD Pediatr 152: (Suppl 2)
3706 c.2591T 3706T >G
S62, 1993
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0257 CAIS Substitut. 7 * 865 2593 p.(Asp865 Asn) low Transactivation Female Normal Bevan et al. J Steroid
LBD activity increases Biochem Mole Biol 61:
3708 c.2593G 3708G >A
with horm. 19-26, 1997
0471 CAIS Substitut. 7 865 2593 p.(Asp865 Asn) Epididymis & vas Female Normal Hannema et al. J Clin
3708 c.2593G 3708G >A
5815-5822, 2004
0472 CAIS Substitut. 7 865 2594 p.(Asp865 Gly) zero Woolfian remnants Female Normal Hannema et al. J Clin
3709 c.2594A 3709A >G
5815-5822, 2004
0258 CAIS Substitut. 7 * 865 2594 p.(Asp865 Gly) zero Female Normal DeBellis et al. Mol
3709 c.2594A 3709A >G
1992
0486 CAIS Substitut. 7 866 2596 p.(Ser866 Pro) Female Normal Ahmed et al. J Clin
3711 c.2596T 3711T >C
658-665, 2000
0560 CAIS Substitut. 7 866 2596 p.(Ser866 Pro) de novo mut. also Female Normal pos Mongan et al. J Clin
LBD Phe857Leu mut -no Endocrinol Metab 87:
3711 c.2596T 3711T >C
effect horm binding 1057-1061, 2002
0345 PAIS Substitut. 7 867 2599 p.(Val867 Leu) 25 normal high Male Ambiguous Saunders et al. Clin
LBD Endocrinol, 37: 214,
3714 c.2599G 3714G >T
1992
0260 PAIS Substitut. 7 * 867 2599 p.(Val867 Leu) normal high Male Ambiguous pos Kazemi-Esfarjani et al.
LBD Mol Endocrinol, 7: 37
3714 c.2599G 3714G >T
-46, 1993
0261 PAIS Substitut. 7 867 2599 p.(Val867 Leu) high Male Ambiguous pos Hiort et al. J Clin
3714 c.2599G 3714G >T
262-266, 1993
0262 PAIS Substitut. 7 * 867 2599 p.(Val867 Leu) zero Merkabi et al. 75th US
3714 c.2599G 3714G >T
Abstr 602, 1993
0263 CAIS Substitut. 7 ** 867 2599 p.(Val867 Met) 20 16 normal high Female Normal Kazemi-Esfarjani et al.
LBD Mol Endocrinol, 7: 37
3714 c.2599G 3714G >A
-46, 1993
0264 CAIS Substitut. 7 ** 867 2599 p.(Val867 Met) normal high Female Normal Weidemann et al. Clin
3714 c.2599G 3714G >A
-
0265 CAIS Substitut. 7 * 867 2599 p.(Val867 Met) normal high * Female Normal Lubahn et al. Proc Natl
LBD Acad Sci. 86: 9534,
3714 c.2599G 3714G >A
1989
0266 PAIS Substitut. 7 * 867 2599 p.(Val867 Met) * McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3714 c.2599G 3714G >A
0267 PAIS Substitut. 7 * 867 2599 p.(Val867 Met) high * de novo mutation - Female Ambiguous neg Hiort et al. J Pediatrics
LBD mosaic 2 functionally 132: 939- 943, 1998
3714 c.2599G 3714G >A
diff AR's
0373 Prostate Substitut. 7 * 867 2599 p.(Val867 Met) Somatic mutation Male Normal Takahashi et al. Cancer
3714 c.2599G 3714G >A
-1624, 1995
0473 CAIS Substitut. 7 * 867 2599 p.(Val867 Met) Vas deferens present Female Normal Hannema et al. J Clin
3714 c.2599G 3714G >A
5815-5822, 2004
0474 CAIS Substitut. 7 * 867 2599 p.(Val867 Met) zero Woolfian remnants Female Normal Hannema et al. J Clin
3714 c.2599G 3714G >A
5815-5822, 2004
0475 CAIS Substitut. 7 * 867 2599 p.(Val867 Met) zero Epididymis present Female Normal Hannema et al. J Clin
3714 c.2599G 3714G >A
5815-5822, 2004
0607 CAIS Substitut. 7 * 867 2599 p.(Val867 Met) zero Female Normal Holterhaus et al.
LBD Genome Biology 4:
3714 c.2599G 3714G >A
R37
0738 PAIS Substitut. 7 * 867 2599 p.(Val867 Met) Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3714 c.2599G 3714G >A
0739 CAIS Substitut. 7 * 867 2599 p.(Val867 Met) Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3714 c.2599G 3714G >A
0574 Prostate Substitut. 7 * 867 2599 p.(Val867 Met) Somatic mutation. + Male Normal Hyytinen et al. Lab
Cancer LBD orchiectomy Invest. 82: 1591-1598,
3714 c.2599G 3714G >A
treatment Horm- 2002
0778 MAIS Substitut. 7 * 867 2599 p.(Val867 Met) Male infertility Male Normal Ferlin et al. Clin
3714 c.2599G 3714G >A
-610, 2006
0268 CAIS Substitut. 7 867 2600 p.(Val867 Glu) Female Normal McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3715 c.2600T 3715T >A
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0855 CAIS 7 867 p.(Val867 fs) Frameshift & stop in Female Normal pos Cheikhelard et al. J
LBD Codon 876 Diag 15yr Urol 180: 1496-1501,
Bilat gonadect at 16y 2008
0856 CAIS 7 867 p.(Val867 fs) Frameshift & stop in Female Normal pos Cheikhelard et al. J
LBD Codon 876 Diag & Urol 180: 1496-1501,
Bilat gonadect at 11yr 2008
0259 PAIS Substitut. 7 867 2599 p.(Val867 Leu) 21 normal high Male Ambiguous pos Saunders et al. Clin
LBD Endocrinol 37: 214,
3714 c.2599G 3714G >T
1992
0851 CAIS Substitut. 7 868 2602 p.(Gln868 *) Diag at 2.5 yr Female Normal pos Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3717 c.2602C 3717C >T
2008
0852 CAIS Substitut. 7 868 2602 p.(Gln868 *) Diag at 2 wk Female Normal pos Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3717 c.2602C 3717C >T
2008
0940 Prostate Substitut. 7 868 2602 p.(Gln868 *) Both treated and Male Normal Steinkamp et al. Cancer
Cancer LBD untreated Occurred in Res 69: 4434-4442,
3717 c.2602C 3717C >T
2 cases 2009
1054 Female Substitut. 7 868 2604 p.(Gln868 His MDA-MB-453 breast Female Normal Moore et al. Endocr
Breast LBD cancer cell line Related Cancer 19:599
3719 c.2604G 3719G >T
Caner reduced sensi to DHT -613, 2012
0601 CAIS Insertion 7 869 p.(Pro869 ) 3 base insertion Female Normal Scheiber et al. J
LBD insA (ATG) at codon 869 Pediatric Endo Metab
TG 16: 367-373, 2003
0269 PAIS Substitut. 8 * 870 2610 p.(Ile870 Met) normal high * Hypospadia Male Ambiguous pos Bevan et al. Hum Mol
LBD Genet 5: 265-273, 1996
3725 c.2610T 3725T >G
0718 PAIS Substitut. 8 870 2610 p.(Ile870 Met) high Male Ambiguous pos Deeb et al. Clinical
3725 c.2610T 3725T >G
-62, 2005
0270 PAIS Substitut. 8 * 871 2612 p.(Ala871 Val) Found in two Male Ambiguous Hiort et al. Eur J
LBD unrelated families Pediatr, 153: 317, 1994
3727 c.2612C 3727C <T
0315 PAIS Substitut. 8 871 2612 p.(Ala871 Gly) Servere hypospadias Male Ambiguous Albers et al. J of
LBD Pediatrics 131: 388
3727 c.2612C 3727C >G
-392, 1997
0271 PAIS Substitut. 8 * 871 2612 p.(Ala871 Gly) de novo mutation Female Ambiguous neg Hiort et al. J Pediatrics
LBD 132: 939- 943, 1998
3727 c.2612C 3727C >G
0562 MAIS Substitut. 8 * 871 2612 p.(Ala871 Gly) bilateral Male Normal Zenteno et al. Horm
LBD gynecomastia Res 57: 90-93, 2002
3727 c.2612C 3727C >G
normal fertility
0794 CAIS ? Deletion 8 871 2613 p.(Ala87l ) 1 nt deletion Mueller et al. Hum
LBD Genet 119: 673, 2006
3728 c.2613 3728 delG
0951 PAIS Substitut. 8 * 871 2612 p.(Ala871 Val) Micropenis only- Male Ambiguous Bhangoo et al. Asian J
LBD Hetrozygous for Androl 12: 561-566,
3727 c.2612C 3727C >T
SRD5A2 V89L 2010
1010 PAIS Substitut. 8 * 871 2612 p.(Ala871 Val) 25 11 Male Ambiguous neg Audi et al. J Clin
3727 c.2612C 3727C >T
1876-1888, 2010
1098 PAIS Substitut. 8 * 871 2612 p.(Ala871 Val) Hughes et al. Semin
3727 c.2612C 3727C >T
-442, 2012
1099 PAIS Substitut. 8 * 871 2612 p.(Ala871 Glu) Hughes et al. Semin
3727 c.2612C 3727C >A
-442, 2012
0272 MAIS Substitut. 8 * 872 2614 p.(Arg872 Gly) 26 24 normal normal norm Gynocomastia & Male Normal Shkolny et al. J Clin
LBD oligospermia Endocrinol Metab 84:
3729 c.2614A 3729A >G
805-810, 1999
0696 Prostate Substitut. 8 * 873 2617 p.(Glu873 Gln) 24 normal normal Activated by Male Normal Chen et al. The Prostate
cancer LBD estrodiol, 63: 395-406, 2005
3732 c.2617G 3732G >C
progesterone & CPA
0273 Prostate Substitut. 8 875 2623 p.(His875 Tyr) Som mut- stimulated Male Normal Taplin et al. New
cancer LBD by progesterone & England J Med 332:
3738 c.2623C 3738C >T
oestrogen 1393-1398, 1995
0274 Prostate Substitut. 8 875 2623 p.(His875 Tyr) Somatic mutation Male Normal Tan et al. J of Urology
cancer LBD 155: 340A, 1996
3738 c.2623C 3738C >T
0538 CAIS Substitut. 8 875 2624 p.(His875 Arg) zero Female Normal Chavez et al. J Hum
LBD Genet. 46: 560-565,
3739 c.2624A 3739A >G
2001
0868 CAIS Substitut. 8 875 2624 p.(His875 Arg) Prenatal diagnosis Female Normal pos Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3739 c.2624A 3739A >G
2008
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0869 CAIS Substitut. 8 875 2624 p.(His875 Arg) Prenatal diagnosis Female Normal pos Cheikhelard et al. J
LBD Urol 180: 1496-1501,
3739 c.2624A 3739A >G
2008
0870 CAIS Substitut. 8 875 2624 p.(His875 Arg) Diagnosis at 2mo Female Normal pos Cheikhelard et al. J
LBD bilateral gnadectomy Urol 180: 1496-1501,
3739 c.2624A 3739A >G
at 16yrs 2008
0871 CAIS Substitut. 8 875 2624 p.(His875 Arg) Diagnosis at 1yr Female Normal pos Cheikhelard et al. J
3739 c.2624A 3739A >G
at 15yrs 2008
0872 CAIS Substitut. 8 875 2624 p.(His875 Arg) Diagnosis at 7 yrs Female Normal pos Cheikhelard et al. J
3739 c.2624A 3739A >G
at 14yrs 2008
0873 CAIS Substitut. 8 875 2624 p.(His875 Arg) Prenatal diagnosis & Female Normal pos Cheikhelard et al. J
3739 c.2624A 3739A >G
at 14yrs 2008
0275 LNCaP Substitut. 8 878 2632 p.(Thr878 Ala) Altered binding Male Normal Veldscholte et al.
cell line LBD specificity - somatic Biochem Biophys Res
3747 c.2624A 3747A >G
mutation Comm, 172: 534, 1990
0276 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) Somatic mutation 1/8 Male Normal Suzuki et al. J Steroid
cancer LBD endocrine resistant Biochem Molec Biol
3747 c.2624A 3747A >G
therapy cases 46: 759, 1993
0277 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) 6 out of 24 patients Male Normal Gaddipati et al. Cancer
cancer LBD screened - somatic Res,
3747 c.2624A 3747A >G
mutation 54: 2861-2864, 1994
0278 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) 3 out of 22 cases in Male Normal Suzuki et al. Prostate
cancer LBD metastatic tissue - 29: 153-158, 1996
3747 c.2624A 3747A >G
somatic mutation
0279 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) Somatic mutation in Male Normal Kleinerman et al. J of
cancer LBD bone metasteses of Urology 155: 624A,
3747 c.2624A 3747A >G
Prostate cancer 1996
0432 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) Som mut found in 5 Male Normal Taplin et al. Cancer
cancer LBD of 16 patients treated Research 59: 2511
3747 c.2624A 3747A >G
with flutamide -2515
0603 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) Somatic mutation - Male Normal Taplin et al. J Clinical
cancer LBD flutamide treated Oncology 21: 2673
3747 c.2624A 3747A >G
-2678, 2003
0604 Prostate Substitut. 8 878 2632 p.(Thr878 Ala) Somatic mutation - Male Normal Taplin et al. J Clinical
cancer LBD flutamide treated Oncology 21: 2673
3747 c.2624A 3747A >G
-2678, 2003
0647 Prostate Substitut. 8 * 878 2632 p.(Thr878 Ala) +Q641*- late stage Male Normal Ceraline et al. Intl J
cancer LBD disease- som mut - Cancer 108: 152-157,
3747 c.2624A 3747A >G
transactivates 2003
0280 Prostate Substitut. 8 * 878 2633 p.(Thr878 Ser) Som mut. in 86% of Male Normal Taplin et al: New
cancer LBD isolates.Stimulated by England J Med 332:
3748 c.2633C 3748C >G
estrogen & progester 1393-1398, 1995
1026 AIS Substitut. 8 878 2633 p.(Thr878 Ile) Mueller et al. Hum
LBD Gen 127: 479, 2010
3748 c.2633C 3748C >T
0539 PAIS Substitut. 8 880 2638 p.(Asp880 Tyr) normal Male Ambiguous Chavez et al. J Hum
LBD Genet. 46: 560-565,
3753 c.2638G 3753G >T
2001
0553 Prostate Substitut. 8 880 2639 p.(Asp880 Gly) Treated with Male Normal Taplin et al. J Clinical
cancer LBD bicalumatide - Oncology 21: 2673
3754 c.2639A 3754A >C
somatic mutatation -2678, 2003
0281 CAIS Substitut. 8 882 2644 p.(Leu882 Val) Somatic instabilty in Female Normal pos Davies et al. Clinical
LBD polyglutamine tract Endocrinology 43: 69
3759 c.2644C 3759C >G
-77, 1995
1100 PAIS Substitut. 8 882 2644 p.(Leu882 Ile) Hughes et al. Semin
3759 c.2644C 3759C >A
-442, 2012
0829 CAIS Substitut. 8 882 2645 p.(Leu882 Pro) Female Normal neg Galani et al. Fertility &
LBD Sterility 2008
3760 c.2645T 3760T >C
0282 CAIS Substitut. 8 884 2650 p.(Lys884 *) zero Female Normal pos Trifiro et al. Am J Med
LBD Genet, 40: 493, 1991
3765 c.2650A 3765A >T
0623 CAIS Substitut. 8 885 2654 p.(Ser885 *) 23 v low Female Normal MacLean et al. Hum
LBD Mutat. 23: 287, 2004
3769 c.2654C 3769C >G
0283 MAIS Substitut. 8 * 887 2659 p.(Met887 Val) 23 23 normal normal norm Oligospermia-50% Male Normal Ghadessy et al. J. Clin.
LBD red. in transactivation Endocrinol. 103: 1517
3774 c.2659A 3774A >G
-1525, 1999
0309 MAIS Substitut. 8 * 887 2659 p.(Met887 Val) 21 24 normal normal norm Oligospermia-50% Male Normal Ghadessy et al. J. Clin.
LBD red. in transactivation Endocrinol. 103: 1517
3774 c.2659A 3774A >G
-1525, 1999
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0803 Liver Substitut. 8 * 887 2659 p.(Met887 Val) 21 24 Som mut ? + T1034G Male Normal Yeh et al. Int J Cancer
cancer LBD in 5'UTR. found in 120: 1610-1617, 2007
3774 c.2659A 3774A >G
tum & non-tumorous
0697 Prostate Substitut. 8 * 887 2661 p.(Met887 Ile) 21 normal normal Increased response to Male Normal Chen et al. The Prostate
cancer LBD TIF-2 & CBP w DHT 63: 395-406, 2005
3776 c.2661G 3776G >A
w N-CoR > inhibition
0593 PAIS Substitut. 8 * 889 2667 p.(Ser889 Lys) no immunoreactive Female Normal Avila et al. J Clin
LBD AR Endocrinol Metab 87.
3782 c.2667_2668 3782_3783 delins
AG 182-188. 2002
0533 PAIS Substitut. 8 * 889 2667 p.(Ser889 ) 21 24 v low normal silent mut.-part exon Male Ambiguous Hellwinkel et al. J Clin
/ Splice LBD 8+ part of 3' untransl Endocrinol Metab 86:
3782 c.2667C 3782C >T
also small amt. wt AR 2569-2575, 2001
0540 PAIS Substitut/ 8 * 889 2667 p.(Ser889 ) normal silent mutation Male Ambiguous Chavez et al. JHum
Splice LBD Genet. 46: 560-565
3782 c.2667C 3782C >T
2001
1011 PAIS Substitut. 8 * 889 2667 p.(Ser889 ) 23 17 zero zero mother heterozygote Female Ambiguous pos Audi et al. J Clin
3782 c.2667C 3782C >T
1876-1888, 2010
1012 PAIS Substitut. 8 * 889 2667 p.(Ser889 ) 25 18 Female Ambiguous neg Audi et al. J Clin
3782 c.2667C 3782C >T
1876-1888, 2010
0284 CAIS Substitut. 8 * 890 2668 p.(Val890 Met) zero Female Normal Pinsky et al. Clin Inv
LBD Med, 15: 456, 1992
3783 c.2668G 3783G >A
0285 PAIS Substitut. 8 ** 890 2668 p.(Va890 Met) low normal Female Ambiguous De Bellis et al. J Clin
3783 c.2668G 3783G >A
513, 1994
0321 PAIS Substitut. 8 * 890 2668 p.(Val890 Met) Female Normal Essawi et al. Disease
LBD Markers 13: 99-105,
3783 c.2668G 3783G >A
1997
0476 CAIS Substitut. 8 * 890 2668 p.(Val890 Met) low normal Female Normal Ahmed et al. J Clin
3783 c.2668G 3783G >A
658-665, 2000
0624 CAIS Substitut. 8 * 890 2668 p.(Val890 Met) 22 low Female Normal MacLean et al. Hum
LBD Mutat. 23: 287, 2004
3783 c.2668G 3783G >A
0740 CAIS Substitut. 8 * 890 2668 p.(Val890 Met) Female Normal neg Ledig et al: Horm Res
LBD 63: 263-269, 2005
3783 c.2668G 3783G >A
0999 CAIS Substitut. 8 * 890 2668 p.(Val890 Met) 21 17 1 sister affected; Female Normal pos Audi et al. J Clin
LBD mother heterozygote; Endocrinol Metab 95:
3783 c.2668G 3783G >A
2 aunts wt 1876-1888, 2010
1013 PAIS Substitut. 8 * 890 2668 p.(Val890 Met) 18 14 Male Ambiguous neg Audi et al. J Clin
3783 c.2668G 3783G >A
1876-1888, 2010
0433 Prostate Substitut. 8 * 891 2671 p.(Asp891 Asn) Mutation also found Male Normal Taplin et al. Cancer
cancer LBD in peripheral blood Research 59: 2511
3786 c.2671G 3786G >A
-2515, 1999
1102 CAIS Substitut. 8 893 2676 p.(Pro893 Thr Female Normal Hughes et al. Semin
3791 c.2676C 3791C >A
-442, 2012
0389 CAIS Substitut. 8 * 893 2677 p.(Pro893 Ser) 26 low high Reduced Female Normal neg Peters et al. Mol &
LBD transactivation Cellular Endocrinol.
3792 c.2677C 3792C >T
148: 47-53, 1999
0375 CAIS Substitut. 8 893 2678 p.(Pro893 Leu) Mutation found in Female Normal pos Knoke et al. Human
LBD two siblings Mutation 12: 220, 1998
3793 c.2678C 3793C >T
0413 CAIS Substitut. 8 893 2678 p.(Pro893 Leu) Female Normal Kanayama et al. Int J
LBD Urology 6: 327-330,
3793 c.2678C 3793C >T
1999
0741 CAIS Substitut. 8 893 2678 p.(Pro893 Leu) Female Normal Ledig et al: Horm Res
LBD 63: 263-269, 2005
3793 c.2678C 3793C >T
0742 CAIS Substitut. 8 893 2678 p.(Pro893 Leu) Female Normal Ledig et al: Horm Res
LBD 63: 263-269, 2005
3793 c.2678C 3793C >T
1101 CAIS Substitut. 8 893 2678 p.(Pro893 Leu) Female Normal Hughes et al. Semin
3793 c.2678C 3793C >T
-442, 2012
0795 CAIS Deletion 8 895 2683 p.(Met895 del) 3 nt deletion Female Normal Mueller et al. Hum
LBD Genet 119: 672, 2006
3798 c.2683-2685 3798-3800 delA
TG
0766 Prostate Substitut. 8 896 2686 p.(Met896 Val) patient lower Gleason Male Normal Sanchez et al. BJU Int
3801 c.2686A 3801A >G
AR- som mutation
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0669 CAIS Substitut. 8 896 2687 p.(Met896 Thr) Somatic mosaicism Male Ambiguous Kohler et al. J Clin
3802 c.2687T 3802T >C
106-111, 2005
0386 CAIS Substitut. 8 * 896 2687 p.(Met896 Thr) low Reduced Female Normal Giwercman et al.
LBD transactivation Human Genetics 103:
3802 c.2687T 3802T >C
529-531, 1998
1000 CAIS Substitut. 8 896 2687 p.(Met896 Thr) 26 17 Female Normal neg Audi et al. J Clin
3802 c.2687T 3802T >C
1876-1888, 2010
1103 CAIS Substitut. 8 * 896 2687 p.(Met896 Thr) Female Normal Hughes et al. Semin
3802 c.2687T 3802T >C
-442, 2012
1104 PAIS Substitut. 8 897 2690 p.(Ala897 Glu) Hughes et al. Semin
3085 c.2690 3085C >A
-442, 2012
1105 PAIS Substitut. 8 898 2693 p.898Glu Gly Hughes et al. Semin
3088 c.2693 3088A >G
-442, 2012
0642 PAIS Substitut. 8 899 2695 p.(Ile899 Phe) 19 Testis located in labia Female Ambiguous pos Melo et al. J Clin
LBD majora- Separated Endocrinol Metab 88:
3810 c.2695A 3810A >T
vaginal & urethra opn 3241-3250, 2003
0643 PAIS Substitut. 8 899 2695 p.(Ile899 Phe) 19 Testis located in Female Ambiguous pos Melo et al. J Clin
LBD inguinal -Separated Endocrinol Metab 88:
3810 c.2695A 3810A >T
LBD inguinal- Single Endocrinol Metab 88:
3810 c.2695A 3810A >T
LBD inguinal -Separated Endocrinol Metab 88:
3810 c.2695A 3810A >T
0286 CAIS Substitut. 8 899 2696 p.(Ile899 Thr) de novo mutation Female Normal neg Hiort et al. J Pediatrics
LBD 132: 939- 943, 1998
3811 c.2696T 3811T >C
0649 PAIS Substitut. 8 * 903 2707 p.(Gln903 Lys) high high Involved in TIF2 N/C Male Ambiguous pos Umar et al. J Cin
LBD interaction Endocrinol & Metab
3822 c.2707C 3822C >A
90: 507-515, 2005
1014 PAIS Substitut. 8 903 2707 p.(Gln903 Lys) 21 17 mother heterozygote Female Ambiguous pos Audi et al. J Clin
3822 c.2707C 3822C >A
1876-1888, 2010
0287 Prostate Substitut. 8 903 2708 p.(Gln903 Arg) Somatic mutation in Male Normal Taplin et al. New
cancer LBD 37% of isolates in England J Med 332:
3823 c.2708A 3823A >G
initial cloning 1393-1398, 1995
0288 PAIS Substitut. 8 904 2710 p.(Val904 Met) low Qualitative binding McPhaul et al. J Clin
LBD abnormality Inv 90: 2097, 1992
3825 c.2710G 3825G >A
1001 CAIS Substitut. 8 904 2710 p.(Val904 Leu) 23 18 Mother heterozygote Female Normal pos Audi et al. J Clin
3825 c.2710G 3825G >T
1876-1888, 2010
0289 CAIS Substitut. 8 905 2713 p.(Pro905 Ser) 27 23 normal high Female Normal Pinsky et al. Clin Inv
LBD Med, 15: 456-472, 1992
3828 c.2713C 3828C >T
0290 CAIS Substitut. 8 905 2714 p.(Pro905 His) zero Female Normal McPhaul et al. J Clin
LBD Inv, 90: 2097, 1992
3829 c.2714C 3829C >A
0646 CAIS Substitut. 8 905 2714 p.(Pro905 Val) 21 Testis located in Female Normal neg Melo et al. J Clin
LBD inguinal region Endocrinol Metab 88:
3829 c.2714C 3829C >G
3241-3250, 2003
1002 CAIS Deletion 8 906 2715 p.(Pro905 fs) 22 17 mother heterozygote Female Normal pos Audi et al. J Clin
3830 c.2715 3830 delC
1876-1888, 2010
0291 CAIS Substitut. 8 * 908 2722 p.(Leu908 Phe) low normal Decreased Female Normal Hannema et al. J Clin
LBD transactivat Endocrinol Metab 89:
3837 c.2722C 3837C >T
Epididymis & Vas 5815-5822, 2004
0292 PAIS Substitut. 8 * 910 2728 p.(Gly910 Arg) low low Also silent G to A Female Ambiguous pos Choong et al. J Clin
LBD mutation in codon Endocrinol Metab, 81:
3843 c.2728G 3843G >A
213 236-243, 1996
0374 Prostate Substitut. 8 910 2729 p.(Gly910 Glu) Somatic mutation Male Normal Takahashi et al. Cancer
3844 c.2729G 3844G >A
-1624, 1995
0327 Prostate Substitut. 8 911 2732 p.(Lys911 Arg) Somatic mutation Male Normal Watanabe et al. Jpn J
cancer LBD Clin Oncol 27: 389
3847 c.2732A 3847A >G
-393, 1997
0430 PAIS Substitut. 8 912 2734 p.(Val912 Leu) 19 Servere Male Ambiguous Knoke et al. Andrologia
LBD oligozoospermia 31: 199-201, 1999
3849 c.2734G 3849G >C
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0293 PAIS Substitut. 8 914 2740 p.(Pro914 Ser) Ghirri and Brown. Paed
LBD Res, 33(5) Suppl, Abstr
3855 c.2740C 3855C >T
95, 1993
1015 PAIS Substitut. 8 914 2740 p.(Pro914 Ser) zero zero Female Ambiguous neg Audi et al. J Clin
3855 c.2740C 3855C >T
1876-1888, 2010
0958 CAIS Substitut. 8 914 2741 p.(Pro914 Arg) Female Normal neg Wu et al. Fertility &
LBD Sterility 93: 2076, e1-4,
3856 c.2741C 3856C >G
2010
0844 CAIS Deletion 8 * 916 p.(Phe917 *) 12nt del. Stop in codon Female Normal pos Werner et al. Sex Dev
LBD 917 affect sister & aunts. 2: 73-83, 2008
neg. N/C interaction
0318 CAIS Substitut. 8 * 917 2751 p.(Phe917 Leu) low high * Female Normal Radnayr et al. J of
LBD Urology 158: 1553
3866 c.3866C 3866C >G
-1556, 1997
0477 CAIS Substitut. 8 918 2753 p.(His918 Arg) Female Normal Ahmed et al. J Clin
3868 c.3868A 3868A >G
658-665, 2000
0303 Prostate Substitut. * 920 2759 p.(Gln920 Arg) Somatic mutation Male Normal Nazareth et al. 79th US
cancer Endo Soc Meetings
3874 c.3874A 3874 >G
Abstr. P2-498, 1997
0294 CAIS Splice exon1/ 24 23 Insertion at +3 Female Normal Trifiro et al. Eur J Hum
intron c.1616+2 2731+2_2731 insT position of donor Genetics 5: 50-58, 1997
1 _1616+3 +3 splice site
0906 CAIS Splice exon1/ Substitution at +5 of Female Normal pos Philibert et al. Fertility
intron donor spice site & Sterility 94: 472-476
c.1616+5G 2731+5G >C
1 2010
0304 CAIS Splice exon2/ Substitution at +1 Female Normal neg Hellwinkel et al. J
intron pos of donor splice Steroid Biochem Mol
c.1768+1G 2883+1G >A
2 site - lacks exon 2 Biol 68: 1-9, 1999
0479 CAIS Splice exon2/ zero Female Normal Ahmed et al. J Clin
intron Endocrinol Metab 85:
2 658-665, 2000
0480 CAIS Splice exon2/ Female Normal Ahmed et al. J Clin
intron Endocrinol Metab 85:
2 658-665, 2000
0351 CAIS Splice exon2/ Substition at + 1 pos Female Normal Hiort et al. J Pediatrics
intron of donor splice site 132: 939- 943, 1998
c.1768+1G 2883+1G >A
2
0317 Breast Deletion exon3 delta-exon3AR mRNA: Female Normal Zhu X et al. Int J
Cancer higher express of mut. var Cancer 72: 574-580,
in 7/13 breast cancer
1997
1022 Premature Substitut. exon3/ Substitution at +9 of Female Normal Panda et al. Gyncol
ovarian intron donor site. Patient Endocrinol 27: 1-7,
c.1885+9C 3000+9C >A
failure 3 had menopause at 18 2011
0295 CAIS Splice exon3/ Substitution at +1 Female Normal Evans et al. J
intron position of donor Endocrinol 129 Suppl,
c.1885+1G 3000+1G >A
3 splice site Abstr 65, 1991
0478 CAIS Splice exon3/ normal normal Substitution at +1 Female Normal Ahmed et al. J Clin
intron position of donor Endocrinol Metab 85:
c.1885+1G 3000+1G >A
3 splice site 658-665, 2000
0296 CAIS Splice exon4/ zero +1 pos of donor site. Female Normal Ris-Stalpers et al. Proc
intron Splice site activated Natl AcadSci 87: 7866
c.2173+1G 3288+1G >T
4 & p.(684G_724Pdel) -70, 1990
1057 CAIS Splice exon5/ Mother + a sister Female Normal pos Vasu et al. Genet Test
intron carriers Mol Biomarkers 16:749
c.2320+1G 3435+1G >A
5 -755, 2012
1018 CAIS Splice exon6/ 28 17 low normal Substit. at -44 pos of Female Normal neg Audi et al. J Clin
intron c.2450-44G 3565-44G >A donor acceptor site Endocrinol Metab 95:
6 1876-1888, 2010
0503 PAIS Splice exon6/ low normal Substit. at +5 position Female Ambiguous Sammarco et al. J Clin
intron c.2449+5G 3564+5G >T of donor splice site, Endocrinol Metab 85:
6 stop at + 79 bases 3256-3261, 2000
0541 CAIS Splice exon6/ zero Substit. at +5 position Female Normal Chavez et al. J Hum
intron c.2449+5G 3564+5G >C of donor splice site. Genet 46: 560-565,
6 2001
1029 CAIS Splice exon6/ Substitution at +3 pos Trifiro et al. Eur J Hum
intron of donor splice site. Genetics 5: 50-58, 1997
c.2449+3A 3564+3A >T
6 Exon 6 skipped
0298 CAIS Splice exon7/ zero Substit. +1 pos donor Female Normal pos Lim et al. Mol & Cell
intron splice, mRNA exon 7del, Endocrinology 131: 205
c.2607+1G 3722+1G >A stop + 10 aa from exon 8
7 -210, 1997
0502 CAIS Splice exon7/ Substitution at + 1 Female Normal Choi et al. Arch
intron position of donor Gynecol Obstet 263:
c.2607+1G 3722+1G >T
7 splice site 201-205, 2000
Pathogenicity
Thermolabile
Gln # Gly #
Bmax Kd
Reference
k
0670 CAIS Splice exon7/ normal normal Substit. at + 1 pos of Female Normal Kohler et al. J Clin
intron donor splice site Endocrinol Metab 90:
c.2607+1G 3722+1G >A
7 somtaic mosaicsm 106-111, 2005
0088 PAIS Deletion intron normal normal ≥6 kb del at -19 pos Male Ambiguous pos Ris-Stalpers et al. Am J
2 c.?_1769-19 ?_2884-19 del of acceptor site. 2 Hum Genet 54: 609,
transcr: wt, exon3del 1994
0749 PAIS Deletion intron normal high 6 kb del of intron 2, Male Ambiguous pos Boehmer et al. J Clin
2 affects splicing, Endocrinol Metab 86:
related to 0750 4151-4160, 2001
0750 PAIS Deletion intron related to 0749 Male Ambiguous pos Boehmer et al. J Clin
2 Endocrinol Metab 86:
4151-4160, 2001
0299 PAIS Splice intron Subst. -11 slice accept. 2 Male Normal pos Bruggenwirth et al.
2/exon transc: exon3del & +69 Am J Hum Genet 61:
c.1769-11T 2884-11T >A nt; 3 affct sib, var phen
3 1067-1077, 1997
0809 Prostate Splice intron * AR23 variant, ins 69 Male Normal Jagla et al.
cancer 2/exon c.1768_1769 2883_2884 ins69 nt of intron 2 = 23 aa, Endocrinology 148:
3 affects AR trafficking 4334-43, 2007
1017 CAIS Splice intron 26 18 Substit at -3 of Female Normal pos Audi et al. J Clin
2/exon acceptor site. Aborted Endocrinol Metab 95:
c.1769-3C 2884-3C >G
3 fetus 1876-1888, 2010
0909 Prostate Splice intron AR23 splice variant, Male Normal Steinkamp et al. Cancer
cancer 2/exon c.1768_1769 2883_2884 ins69 ins 69 nt of intron 2, Res 69: 4434-4442,
3 found in 5/8 cases 2009
0800 CAIS Splice intron Subst. -1 pos accept. Male Normal Jaaskelainen et al. Hum
2/exon transc: Mutat 27: 291, 2006
c.1769-1G 2884-1G >A
3 2883_2884ins69
1016 CAIS Splice intron 13 18 Substit at -2 of Female Normal pos Audi et al. J Clin
2/exon acceptor site. Also Endocrinol Metab 95:
c.1769-2A 2884-2A >C
3 Lys591Glu mut 1876-1888, 2010
0594 CAIS Splice intron Substit at -1 of Female Normal Avila et al. J Clin
3/exon acceptor site. Endocrinol Metab 87:
c.1886-1G 3001-1G >T
4 182-188, 2002
0835 PAIS Substitut. intron Male to female Female Ambiguous Melo et al. Arq Bras
3/exon c.1886-60G 3001-60G >A Endocrinol Metab 49:
4 87-97, 2005
0323 Prostate 3'UTR Polymorphism in Male Normal Paz et al. European
cancer 3"UTR Somatic Urology 63:56-62, 2005
mutation

Androgen Receptor Gene Mutations Database

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ANDROGEN RECEPTOR GENE MUTATIONS DATABASE

0443 CAIS Deletion 3 zero Female Normal Ahmed et al. J Clin

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