GPCRDB: Swiss-Prot entry
ID ANDR_HUMAN STANDARD; PRT; 919 AA.
AC P10275;
DT 01-MAR-1989 (Rel. 10, Created)
DT 01-APR-1990 (Rel. 14, Last sequence update)
DT 01-MAY-2005 (Rel. 47, Last annotation update)
DE Androgen receptor (Dihydrotestosterone receptor).
GN Name=AR; Synonyms=DHTR, NR3C4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE.
RX MEDLINE=89112208; PubMed=3216866 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lubahn D.B., Joseph D.R., Sar M., Tan J., Higgs H.N., Larson R.E.,
RA French F.S., Wilson E.M.;
RT "The human androgen receptor: complementary deoxyribonucleic acid
RT cloning, sequence analysis and gene expression in prostate.";
RL Mol. Endocrinol. 2:1265-1275(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE, AND VARIANT CAIS MET-866.
RX MEDLINE=90083302; PubMed=2594783 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lubahn D.B., Brown T.R., Simental J.A., Higgs H.N., Migeon C.J.,
RA Wilson E.M., French F.S.;
RT "Sequence of the intron/exon junctions of the coding region of the
RT human androgen receptor gene and identification of a point mutation in
RT a family with complete androgen insensitivity.";
RL Proc. Natl. Acad. Sci. U.S.A. 86:9534-9538(1989).
RN [3]
RP NUCLEOTIDE SEQUENCE.
RX MEDLINE=90258935; PubMed=2342476 [NCBI, ExPASy, EBI, Israel, Japan];
RA Govindan M.V.;
RT "Specific region in hormone binding domain is essential for hormone
RT binding and trans-activation by human androgen receptor.";
RL Mol. Endocrinol. 4:417-427(1990).
RN [4]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Prostate;
RX MEDLINE=89017168; PubMed=3174628 [NCBI, ExPASy, EBI, Israel, Japan];
RA Chang C., Kokontis J., Liao S.;
RT "Structural analysis of complementary DNA and amino acid sequences of
RT human and rat androgen receptors.";
RL Proc. Natl. Acad. Sci. U.S.A. 85:7211-7215(1988).
RN [5]
RP INTERACTION WITH RANBP9.
RX PubMed=12361945 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1074/jbc.M209741200;
RA Rao M.A., Cheng H., Quayle A.N., Nishitani H., Nelson C.C.,
RA Rennie P.S.;
RT "RanBPM, a nuclear protein that interacts with and regulates
RT transcriptional activity of androgen receptor and glucocorticoid
RT receptor.";
RL J. Biol. Chem. 277:48020-48027(2002).
RN [6]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Prostate;
RX MEDLINE=89098909; PubMed=2911578 [NCBI, ExPASy, EBI, Israel, Japan];
RA Tilley W.D., Marcelli M., Wilson J.D., McPhaul M.J.;
RT "Characterization and expression of a cDNA encoding the human androgen
RT receptor.";
RL Proc. Natl. Acad. Sci. U.S.A. 86:327-331(1989).
RN [7]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Prostate;
RX MEDLINE=91155943; PubMed=2293020 [NCBI, ExPASy, EBI, Israel, Japan];
RA Marcelli M., Tilley W.D., Wilson C.M., Griffin J.E., Wilson J.D.,
RA McPhaul M.J.;
RT "Definition of the human androgen receptor gene structure permits the
RT identification of mutations that cause androgen resistance: premature
RT termination of the receptor protein at amino acid residue 588 causes
RT complete androgen resistance.";
RL Mol. Endocrinol. 4:1105-1116(1990).
RN [8]
RP NUCLEOTIDE SEQUENCE OF 1-57; 59-448 AND 457-538.
RX PubMed=2917688 [NCBI, ExPASy, EBI, Israel, Japan];
RA Faber P.W., Kuiper G.G., van Rooij H.C., van der Korput J.A.,
RA Brinkmann A.O., Trapman J.;
RT "The N-terminal domain of the human androgen receptor is encoded by
RT one, large exon.";
RL Mol. Cell. Endocrinol. 61:257-262(1989).
RN [9]
RP NUCLEOTIDE SEQUENCE OF 189-919.
RX MEDLINE=88178111; PubMed=3353726 [NCBI, ExPASy, EBI, Israel, Japan];
RA Chang C., Kokontis J., Liao S.;
RT "Molecular cloning of human and rat complementary DNA encoding
RT androgen receptors.";
RL Science 240:324-326(1988).
RN [10]
RP NUCLEOTIDE SEQUENCE OF 468-919.
RX MEDLINE=88240407; PubMed=3377788 [NCBI, ExPASy, EBI, Israel, Japan];
RA Trapman J., Klaassen P., Kuiper G.G.J.M., van der Korput J.A.G.M.,
RA Faber P.W., van Rooij H.C.J., Geurts van Kessel A., Voorhorst M.M.,
RA Mulder E., Brinkmann A.O.;
RT "Cloning, structure and expression of a cDNA encoding the human
RT androgen receptor.";
RL Biochem. Biophys. Res. Commun. 153:241-248(1988).
RN [11]
RP NUCLEOTIDE SEQUENCE OF 536-540; 587-591; 626-630; 722-726; 770-774;
RP 814-817 AND 866-870.
RX PubMed=2546571 [NCBI, ExPASy, EBI, Israel, Japan];
RA Kuiper G.G., Faber P.W., van Rooij H.C., van der Korput J.A.,
RA Ris-Stalpers C., Klaassen P., Trapman J., Brinkmann A.O.;
RT "Structural organization of the human androgen receptor gene.";
RL J. Mol. Endocrinol. 2:R1-R4(1989).
RN [12]
RP NUCLEOTIDE SEQUENCE OF 559-624.
RX PubMed=3353727 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lubahn D.B., Joseph D.R., Sullivan P.M., Willard H.F., French F.S.,
RA Wilson E.M.;
RT "Cloning of human androgen receptor complementary DNA and localization
RT to the X chromosome.";
RL Science 240:327-330(1988).
RN [13]
RP INTERACTION WITH RAN.
RX MEDLINE=99329028; PubMed=10400640 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1074/jbc.274.29.20229;
RA Hsiao P.-W., Lin D.-L., Nakao R., Chang C.;
RT "The linkage of Kennedy's neuron disease to ARA24, the first
RT identified androgen receptor polyglutamine region-associated
RT coactivator.";
RL J. Biol. Chem. 274:20229-20234(1999).
RN [14]
RP POLYMORPHISM OF POLY-GLN REGION.
RX MEDLINE=92220629; PubMed=1561105 [NCBI, ExPASy, EBI, Israel, Japan];
RA Sleddens H.F.B.M., Oostra B.A., Brinkmann A.O., Trapman J.;
RT "Trinucleotide repeat polymorphism in the androgen receptor gene
RT (AR).";
RL Nucleic Acids Res. 20:1427-1427(1992).
RN [15]
RP POLYMORPHISM OF POLY-GLY REGION.
RC TISSUE=Blood;
RA Lu J., Danielsen M.;
RL Submitted (FEB-1995) to the EMBL/GenBank/DDBJ databases.
RN [16]
RP POLYMORPHISM OF POLY-GLN REGION.
RX MEDLINE=97250535; PubMed=9096391 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1073/pnas.94.7.3320;
RA Giovannucci E., Stampfer M.J., Krithivas K., Brown M., Dahl D.,
RA Brufsky A., Talcott J., Hennekens C.H., Kantoff P.W.;
RT "The CAG repeat within the androgen receptor gene and its relationship
RT to prostate cancer.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:3320-3323(1997).
RN [17]
RP ERRATUM.
RA Giovannucci E., Stampfer M.J., Krithivas K., Brown M., Dahl D.,
RA Brufsky A., Talcott J., Hennekens C.H., Kantoff P.W.;
RL Proc. Natl. Acad. Sci. U.S.A. 94:8272-8272(1997).
RN [18]
RP X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 657-919.
RX PubMed=10840043 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1074/jbc.M004571200;
RA Matias P.M., Donner P., Coelho R., Thomaz M., Peixoto C., Macedo S.,
RA Otto N., Joschko S., Scholz P., Wegg A., Basler S., Schafer M.,
RA Egner U., Carrondo M.A.;
RT "Structural evidence for ligand specificity in the binding domain of
RT the human androgen receptor. Implications for pathogenic gene
RT mutations.";
RL J. Biol. Chem. 275:26164-26171(2000).
RN [19]
RP X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 670-917.
RX PubMed=11906285 [NCBI, ExPASy, EBI, Israel, Japan];
RA Matias P.M., Carrondo M.A., Coelho R., Thomaz M., Zhao X.Y., Wegg A.,
RA Crusius K., Egner U., Donner P.;
RT "Structural basis for the glucocorticoid response in a mutant human
RT androgen receptor (AR(ccr)) derived from an androgen-independent
RT prostate cancer.";
RL J. Med. Chem. 45:1439-1446(2002).
RN [20]
RP REVIEW ON VARIANTS.
RX MEDLINE=93092459; PubMed=1458719 [NCBI, ExPASy, EBI, Israel, Japan];
RA Pinsky L., Trifiro M.A., Kaufman M., Beitel L.K., Mhatre A.,
RA Kazemi-Esfarjani P., Sabbaghian N., Lumbroso R., Alvarado C.,
RA Vasiliou M., Gottlieb B.;
RT "Androgen resistance due to mutation of the androgen receptor.";
RL Clin. Invest. Med. 15:456-472(1992).
RN [21]
RP REVIEW ON VARIANTS AIS.
RX MEDLINE=93339360; PubMed=8339746 [NCBI, ExPASy, EBI, Israel, Japan];
RA Brown T.R., Scherer P.A., Chang Y.-T., Migeon C.J., Ghirri P.,
RA Murono K., Zhou Z.;
RT "Molecular genetics of human androgen insensitivity.";
RL Eur. J. Pediatr. 152 Suppl. 2:S62-S69(1993).
RN [22]
RP REVIEW ON VARIANTS.
RX MEDLINE=94059770; PubMed=8240973 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0960-0760(93)90178-Y;
RA Sultan C., Lumbroso S., Poujol N., Belon C., Boudon C.,
RA Lobaccaro J.-M.;
RT "Mutations of androgen receptor gene in androgen insensitivity
RT syndromes.";
RL J. Steroid Biochem. Mol. Biol. 46:519-530(1993).
RN [23]
RP REVIEW ON VARIANTS.
RX MEDLINE=95023089; PubMed=7937057 [NCBI, ExPASy, EBI, Israel, Japan];
RA Patterson M.N., Hughes I.A., Gottlieb B., Pinsky L.;
RT "The androgen receptor gene mutations database.";
RL Nucleic Acids Res. 22:3560-3562(1994).
RN [24]
RP REVIEW ON VARIANTS.
RX MEDLINE=95352489; PubMed=7626493 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0960-0760(95)00090-M;
RA Brinkmann A.O., Jenster G., Ris-Stalpers C., van der Korput J.A.G.M.,
RA Bruggenwirth H.T., Boehmer A.L.M., Trapman J.;
RT "Androgen receptor mutations.";
RL J. Steroid Biochem. Mol. Biol. 53:443-448(1995).
RN [25]
RP REVIEW ON VARIANTS.
RX MEDLINE=97169385; PubMed=9016528 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1093/nar/25.1.158;
RA Gottlieb B., Trifiro M.A., Lumbroso R., Vasiliou D.M., Pinsky L.;
RT "The androgen receptor gene mutations database.";
RL Nucleic Acids Res. 25:158-162(1997).
RN [26]
RP VARIANT LNCAP ALA-877.
RX MEDLINE=91083633; PubMed=2260966 [NCBI, ExPASy, EBI, Israel, Japan];
RA Veldscholte J., Ris-Stalpers C., Kuiper G.G.J.M., Jenster G.,
RA Berrevoets C.A., Claassen E., van Rooij H.C.J., Trapman J.,
RA Brinkmann A.O., Mulder E.;
RT "A mutation in the ligand binding domain of the androgen receptor of
RT human LNCaP cells affects steroid binding characteristics and response
RT to anti-androgens.";
RL Biochem. Biophys. Res. Commun. 173:534-540(1990).
RN [27]
RP VARIANTS CAIS CYS-774; GLN-831 AND MET-866.
RX MEDLINE=91186983; PubMed=2082179 [NCBI, ExPASy, EBI, Israel, Japan];
RA Brown T.R., Lubahn D.B., Wilson E.M., French F.S., Migeon C.J.,
RA Corfen J.L.;
RT "Functional characterization of naturally occurring mutant androgen
RT receptors from subjects with complete androgen insensitivity.";
RL Mol. Endocrinol. 4:1759-1772(1990).
RN [28]
RP VARIANT CYS-774.
RX MEDLINE=91310758; PubMed=1856263 [NCBI, ExPASy, EBI, Israel, Japan];
RA Marcelli M., Tilley W.D., Zoppi S., Griffin J.E., Wilson J.D.,
RA McPhaul M.J.;
RT "Androgen resistance associated with a mutation of the androgen
RT receptor at amino acid 772 (Arg-->Cys) results from a combination of
RT decreased messenger ribonucleic acid levels and impairment of receptor
RT function.";
RL J. Clin. Endocrinol. Metab. 73:318-325(1991).
RN [29]
RP VARIANT CAIS PRO-617.
RX MEDLINE=91154385; PubMed=1999491 [NCBI, ExPASy, EBI, Israel, Japan];
RA Marcelli M., Zoppi S., Grino P.B., Griffin J.E., Wilson J.D.,
RA McPhaul M.J.;
RT "A mutation in the DNA-binding domain of the androgen receptor gene
RT causes complete testicular feminization in a patient with receptor-
RT positive androgen resistance.";
RL J. Clin. Invest. 87:1123-1126(1991).
RN [30]
RP VARIANT PAIS CYS-763.
RX MEDLINE=91185626; PubMed=2010552 [NCBI, ExPASy, EBI, Israel, Japan];
RA McPhaul M.J., Marcelli M., Tilley W.D., Griffin J.E.,
RA Isidro-Gutierrez R.F., Wilson J.D.;
RT "Molecular basis of androgen resistance in a family with a qualitative
RT abnormality of the androgen receptor and responsive to high-dose
RT androgen therapy.";
RL J. Clin. Invest. 87:1413-1421(1991).
RN [31]
RP VARIANTS CAIS ASN-695 AND HIS-695, AND NUCLEOTIDE SEQUENCE OF 629-723.
RX MEDLINE=92131007; PubMed=1775137 [NCBI, ExPASy, EBI, Israel, Japan];
RA Ris-Stalpers C., Trifiro M.A., Kuiper G.G.J.M., Jenster G., Romalo G.,
RA Sai T., van Rooij H.C.J., Kaufman M., Rosenfield R.L., Liao S.,
RA Schweikert H.-U., Trapman J., Pinsky L., Brinkmann A.O.;
RT "Substitution of aspartic acid-686 by histidine or asparagine in the
RT human androgen receptor leads to a functionally inactive protein with
RT altered hormone-binding characteristics.";
RL Mol. Endocrinol. 5:1562-1569(1991).
RN [32]
RP VARIANTS SBMA IN POLY-GLN REGION.
RX MEDLINE=91287825; PubMed=2062380 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1038/352077a0;
RA la Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H.;
RT "Androgen receptor gene mutations in X-linked spinal and bulbar
RT muscular atrophy.";
RL Nature 352:77-79(1991).
RN [33]
RP VARIANTS CAIS CYS-774 AND HIS-774.
RX MEDLINE=92303560; PubMed=1609793 [NCBI, ExPASy, EBI, Israel, Japan];
RA Prior L., Bordet S., Trifiro M.A., Mhatre A., Kaufman M., Pinsky L.,
RA Wrogemann K., Belsham D.D., Pereira F., Greenberg C.R., Trapman J.,
RA Brinkmann A.O., Chang C., Liao S.;
RT "Replacement of arginine 773 by cysteine or histidine in the human
RT androgen receptor causes complete androgen insensitivity with
RT different receptor phenotypes.";
RL Am. J. Hum. Genet. 51:143-155(1992).
RN [34]
RP VARIANTS PAIS LYS-608 AND LEU-866.
RX MEDLINE=93047389; PubMed=1424203 [NCBI, ExPASy, EBI, Israel, Japan];
RA Saunders P.T., Padayachi T., Tincello D.G., Shalet S.M., Wu F.C.;
RT "Point mutations detected in the androgen receptor gene of three men
RT with partial androgen insensitivity syndrome.";
RL Clin. Endocrinol. (Oxf.) 37:214-220(1992).
RN [35]
RP VARIANT CAIS THR-765.
RX MEDLINE=93050279; PubMed=1426313 [NCBI, ExPASy, EBI, Israel, Japan];
RA Sweet C.R., Behzadian M.A., McDonough P.G.;
RT "A unique point mutation in the androgen receptor gene in a family
RT with complete androgen insensitivity syndrome.";
RL Fertil. Steril. 58:703-707(1992).
RN [36]
RP VARIANT CAIS VAL-749.
RX MEDLINE=93138625; PubMed=1487249 [NCBI, ExPASy, EBI, Israel, Japan];
RA Jakubiczka S., Werder E.A., Wieacker P.;
RT "Point mutation in the steroid-binding domain of the androgen receptor
RT gene in a family with complete androgen insensitivity syndrome
RT (CAIS).";
RL Hum. Genet. 90:311-312(1992).
RN [37]
RP VARIANTS CAIS, AND VARIANTS PAIS.
RX MEDLINE=93338440; PubMed=1307250 [NCBI, ExPASy, EBI, Israel, Japan];
RA Batch J.A., Williams D.M., Davies H.R., Brown B.D., Evans B.A.J.,
RA Hughes I.A., Patterson M.N.;
RT "Androgen receptor gene mutations identified by SSCP in fourteen
RT subjects with androgen insensitivity syndrome.";
RL Hum. Mol. Genet. 1:497-503(1992).
RN [38]
RP VARIANT CAIS VAL-787.
RX MEDLINE=92235226; PubMed=1569163 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.74.5.1152;
RA Nakao R., Haji M., Yanase T., Ogo A., Takayanagi R., Katsube T.,
RA Fukumaki Y., Nawata H.;
RT "A single amino acid substitution (Met-786-->Val) in the steroid-
RT binding domain of human androgen receptor leads to complete androgen
RT insensitivity syndrome.";
RL J. Clin. Endocrinol. Metab. 74:1152-1157(1992).
RN [39]
RP VARIANTS CAIS ARG-741 AND CYS-834.
RX MEDLINE=93100381; PubMed=1464650 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.75.6.1474;
RA Wilson C.M., Griffin J.E., Wilson J.D., Marcelli M., Zoppi S.,
RA McPhaul M.J.;
RT "Immunoreactive androgen receptor expression in subjects with androgen
RT resistance.";
RL J. Clin. Endocrinol. Metab. 75:1474-1478(1992).
RN [40]
RP VARIANTS CAIS, AND VARIANTS PAIS.
RX MEDLINE=93055453; PubMed=1430233 [NCBI, ExPASy, EBI, Israel, Japan];
RA McPhaul M.J., Marcelli M., Zoppi S., Wilson C.M., Griffin J.E.,
RA Wilson J.D.;
RT "Mutations in the ligand-binding domain of the androgen receptor gene
RT cluster in two regions of the gene.";
RL J. Clin. Invest. 90:2097-2101(1992).
RN [41]
RP VARIANT PROSTATE CANCER ALA-877.
RX MEDLINE=92222955; PubMed=1562539 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0960-0760(92)90401-4;
RA Veldscholte J., Berrevoets C.A., Ris-Stalpers C., Kuiper G.G.J.M.,
RA Jenster G., Trapman J., Brinkmann A.O., Mulder E.;
RT "The androgen receptor in LNCaP cells contains a mutation in the
RT ligand binding domain which affects steroid binding characteristics
RT and response to antiandrogens.";
RL J. Steroid Biochem. Mol. Biol. 41:665-669(1992).
RN [42]
RP VARIANTS CAIS TYR-559 AND ARG-576, AND VARIANTS PAIS GLY-597 AND
RP PRO-617.
RX MEDLINE=92261595; PubMed=1316540 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/me.6.3.409;
RA Zoppi S., Marcelli M., Deslypere J.-P., Griffin J.E., Wilson J.D.,
RA McPhaul M.J.;
RT "Amino acid substitutions in the DNA-binding domain of the human
RT androgen receptor are a frequent cause of receptor-binding positive
RT androgen resistance.";
RL Mol. Endocrinol. 6:409-415(1992).
RN [43]
RP VARIANTS CAIS SER-705; VAL-749; PHE-759; HIS-774; CYS-855 AND GLY-864.
RX MEDLINE=93125565; PubMed=1480178 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/me.6.11.1909;
RA De Bellis A., Quigley C.A., Cariello N.F., el-Awady M.K., Sar M.,
RA Lane M.V., Wilson E.M., French F.S.;
RT "Single base mutations in the human androgen receptor gene causing
RT complete androgen insensitivity: rapid detection by a modified
RT denaturing gradient gel electrophoresis technique.";
RL Mol. Endocrinol. 6:1909-1920(1992).
RN [44]
RP VARIANT PAIS/BREAST CANCER GLN-607.
RX MEDLINE=93265137; PubMed=1303262 [NCBI, ExPASy, EBI, Israel, Japan];
RA Wooster R., Mangion J., Eeles R., Smith S., Dowsett M., Averill D.,
RA Barrett-Lee P., Easton D.F., Ponder B.A., Stratton M.R.;
RT "A germline mutation in the androgen receptor gene in two brothers
RT with breast cancer and Reifenstein syndrome.";
RL Nat. Genet. 2:132-134(1992).
RN [45]
RP VARIANT MET-730.
RX MEDLINE=92335289; PubMed=1631125 [NCBI, ExPASy, EBI, Israel, Japan];
RA Newmark J.R., Hardy D.O., Tonb D.C., Carter B.S., Epstein J.I.,
RA Isaacs W.B., Brown T.R., Barrack E.R.;
RT "Androgen receptor gene mutations in human prostate cancer.";
RL Proc. Natl. Acad. Sci. U.S.A. 89:6319-6323(1992).
RN [46]
RP VARIANTS ARG-205 AND ASP-793.
RX MEDLINE=94027050; PubMed=8213813 [NCBI, ExPASy, EBI, Israel, Japan];
RA Macke J.P., Hu N., Hu S., Bailey M., King V.L., Brown T., Hamer D.,
RA Nathans J.;
RT "Sequence variation in the androgen receptor gene is not a common
RT determinant of male sexual orientation.";
RL Am. J. Hum. Genet. 53:844-852(1993).
RN [47]
RP VARIANT CAIS PHE-581.
RX MEDLINE=94039857; PubMed=8224266 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lumbroso S., Lobaccaro J.-M., Belon C., Martin D., Chaussain J.L.,
RA Sultan C.;
RT "A new mutation within the deoxyribonucleic acid-binding domain of the
RT androgen receptor gene in a family with complete androgen
RT insensitivity syndrome.";
RL Fertil. Steril. 60:814-819(1993).
RN [48]
RP VARIANT CAIS VAL-754.
RX MEDLINE=93372806; PubMed=8103398 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lobaccaro J.-M., Lumbroso S., Ktari R., Dumas R., Sultan C.;
RT "An exonic point mutation creates a MaeIII site in the androgen
RT receptor gene of a family with complete androgen insensitivity
RT syndrome.";
RL Hum. Mol. Genet. 2:1041-1043(1993).
RN [49]
RP VARIANT PAIS/BREAST CANCER LYS-608.
RX MEDLINE=94108428; PubMed=8281139 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lobaccaro J.-M., Lumbroso S., Belon C., Galtier-Dereure F.,
RA Bringer J., Lesimple T., Namer M., Cutuli B.F., Pujol H., Sultan C.;
RT "Androgen receptor gene mutation in male breast cancer.";
RL Hum. Mol. Genet. 2:1799-1802(1993).
RN [50]
RP VARIANT CAIS ARG-807.
RX MEDLINE=94108430; PubMed=8281140 [NCBI, ExPASy, EBI, Israel, Japan];
RA Adeyemo O., Kallio P.J., Palvimo J.J., Kontula K., Jaenne O.A.;
RT "A single-base substitution in exon 6 of the androgen receptor gene
RT causing complete androgen insensitivity: the mutated receptor fails to
RT transactivate but binds to DNA in vitro.";
RL Hum. Mol. Genet. 2:1809-1812(1993).
RN [51]
RP VARIANT PAIS VAL-743.
RX MEDLINE=93315568; PubMed=8325932 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.77.1.103;
RA Nakao R., Yanase T., Sakai Y., Haji M., Nawata H.;
RT "A single amino acid substitution (Gly743 --> Val) in the steroid-
RT binding domain of the human androgen receptor leads to Reifenstein
RT syndrome.";
RL J. Clin. Endocrinol. Metab. 77:103-107(1993).
RN [52]
RP VARIANTS CAIS LYS-681 AND THR-842, AND VARIANTS PAIS HIS-840 AND
RP LEU-866.
RX MEDLINE=93315600; PubMed=8325950 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.77.1.262;
RA Hiort O., Huang Q., Sinnecker G.H., Sadeghi-Nejad A., Kruse K.,
RA Wolfe H.J., Yandell D.W.;
RT "Single strand conformation polymorphism analysis of androgen receptor
RT gene mutations in patients with androgen insensitivity syndromes:
RT application for diagnosis, genetic counseling, and therapy.";
RL J. Clin. Endocrinol. Metab. 77:262-266(1993).
RN [53]
RP VARIANTS PAIS HIS-855 AND MET-869.
RX MEDLINE=93233131; PubMed=8097257 [NCBI, ExPASy, EBI, Israel, Japan];
RA Batch J.A., Evans B.A.J., Hughes I.A., Patterson M.N.;
RT "Mutations of the androgen receptor gene identified in perineal
RT hypospadias.";
RL J. Med. Genet. 30:198-201(1993).
RN [54]
RP VARIANT CAIS VAL-743.
RX MEDLINE=93213715; PubMed=8096390 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0960-0760(93)90081-7;
RA Lobaccaro J.-M., Lumbroso S., Berta P., Chaussain J.L., Sultan C.;
RT "Complete androgen insensitivity syndrome associated with a de novo
RT mutation of the androgen receptor gene detected by single strand
RT conformation polymorphism.";
RL J. Steroid Biochem. Mol. Biol. 44:211-216(1993).
RN [55]
RP VARIANTS PROSTATE CANCER HIS-701 AND ALA-877.
RX MEDLINE=94100129; PubMed=8274409 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0960-0760(93)90316-O;
RA Suzuki H., Sato N., Watabe Y., Masai M., Seino S., Shimazaki J.;
RT "Androgen receptor gene mutations in human prostate cancer.";
RL J. Steroid Biochem. Mol. Biol. 46:759-765(1993).
RN [56]
RP VARIANT CAIS MET-866, AND VARIANT PAIS LEU-866.
RX MEDLINE=93188862; PubMed=8446106 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/me.7.1.37;
RA Kazemi-Esfarjani P., Beitel L.K., Trifiro M.A., Kaufman M., Rennie P.,
RA Sheppard P., Matusik R., Pinsky L.;
RT "Substitution of valine-865 by methionine or leucine in the human
RT androgen receptor causes complete or partial androgen insensitivity,
RT respectively with distinct androgen receptor phenotypes.";
RL Mol. Endocrinol. 7:37-46(1993).
RN [57]
RP VARIANT CAIS HIS-615.
RX MEDLINE=94019395; PubMed=8413310 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/me.7.7.861;
RA Mowszowicz I., Lee H.J., Chen H.T., Mestayer C., Portois M.C.,
RA Cabrol S., Mauvais-Jarvis P., Chang C.;
RT "A point mutation in the second zinc finger of the DNA-binding domain
RT of the androgen receptor gene causes complete androgen insensitivity
RT in two siblings with receptor-positive androgen resistance.";
RL Mol. Endocrinol. 7:861-869(1993).
RN [58]
RP VARIANT PROSTATE CANCER MET-715.
RX MEDLINE=94195311; PubMed=8145761 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/me.7.12.1541;
RA Culig Z., Hobisch A., Cronauer M.V., Cato A.C.B., Hittmair A.,
RA Radmayr C., Eberle J., Bartsch G., Klocker H.;
RT "Mutant androgen receptor detected in an advanced-stage prostatic
RT carcinoma is activated by adrenal androgens and progesterone.";
RL Mol. Endocrinol. 7:1541-1550(1993).
RN [59]
RP VARIANTS CAIS PHE-581; VAL-743; VAL-754; GLU-767 AND CYS-855.
RA Lobaccaro J.-M., Lumbroso S., Belon C., Chaussain J.L., Toublanc J.E.,
RA Leheup B., Sultan C.;
RT "Androgen receptor (AR) gene mutations in 6 families with androgen
RT insensitivity syndrome (Abstract #114).";
RL Pediatr. Res. Suppl. 33:S22-S22(1993).
RN [60]
RP VARIANTS PROSTATE CANCER LEU-340 AND GLU-798.
RX MEDLINE=94189145; PubMed=7511268 [NCBI, ExPASy, EBI, Israel, Japan];
RA Castagnaro M., Yandell D.W., Dockhorn-Dworniczak B., Wolfe H.J.,
RA Poremba C.;
RT "Androgen receptor gene mutations and p53 gene analysis in advanced
RT prostate cancer.";
RL Verh. Dtsch. Ges. Pathol. 77:119-123(1993).
RN [61]
RP VARIANT PROSTATE CANCER IN POLY-GLN REGION.
RX MEDLINE=94121667; PubMed=8292051 [NCBI, ExPASy, EBI, Israel, Japan];
RA Schoenberg M.P., Hakimi J.M., Wang S., Bova G.S., Epstein J.I.,
RA Fischbeck K.H., Isaacs W.B., Walsh P.C., Barrack E.R.;
RT "Microsatellite mutation (CAG24-->18) in the androgen receptor gene in
RT human prostate cancer.";
RL Biochem. Biophys. Res. Commun. 198:74-80(1994).
RN [62]
RP VARIANT PROSTATE CANCER ALA-877.
RX MEDLINE=94243798; PubMed=8187068 [NCBI, ExPASy, EBI, Israel, Japan];
RA Gaddipati J.P., McLeod D.G., Heidenberg H.B., Sesterhenn I.A.,
RA Finger M.J., Moul J.W., Srivastava S.;
RT "Frequent detection of codon 877 mutation in the androgen receptor
RT gene in advanced prostate cancers.";
RL Cancer Res. 54:2861-2864(1994).
RN [63]
RP VARIANT PAIS TRP-568.
RX MEDLINE=94244054; PubMed=7910529 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lobaccaro J.-M., Belon C., Lumbroso S., Olewniczack G.,
RA Carre-Pigeon F., Job J.C., Chaussain J.L., Toublanc J.E., Sultan C.;
RT "Molecular prenatal diagnosis of partial androgen insensitivity
RT syndrome based on the Hind III polymorphism of the androgen receptor
RT gene.";
RL Clin. Endocrinol. (Oxf.) 40:297-302(1994).
RN [64]
RP VARIANT PAIS HIS-840.
RX MEDLINE=94214640; PubMed=7909256 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lumbroso S., Lobaccaro J.-M., Belon C., Amram S., Bachelard B.,
RA Garandeau P., Sultan C.;
RT "Molecular prenatal exclusion of familial partial androgen
RT insensitivity.";
RL Eur. J. Endocrinol. 130:327-332(1994).
RN [65]
RP VARIANT PAIS HIS-840.
RX MEDLINE=94264834; PubMed=8205256 [NCBI, ExPASy, EBI, Israel, Japan];
RA Imasaki K., Hasegawa T., Okabe T., Sakai Y., Haji M., Takayanagi R.,
RA Nawata H.;
RT "Single amino acid substitution (840Arg-->His) in the hormone-binding
RT domain of the androgen receptor leads to incomplete androgen
RT insensitivity syndrome associated with a thermolabile androgen
RT receptor.";
RL Eur. J. Endocrinol. 130:569-574(1994).
RN [66]
RP VARIANT PAIS VAL-870.
RX MEDLINE=94307287; PubMed=8033918 [NCBI, ExPASy, EBI, Israel, Japan];
RA Hiort O., Klauber G., Cendron M., Sinnecker G.H., Keim L.,
RA Schwinger E., Wolfe H.J., Yandell D.W.;
RT "Molecular characterization of the androgen receptor gene in boys with
RT hypospadias.";
RL Eur. J. Pediatr. 153:317-321(1994).
RN [67]
RP VARIANT PAIS ASP-690 DEL.
RA Schwartz M., Skovby F., Mueller J., Nielsen O., Skakkebaek N.E.;
RT "Partial androgen insensitivity (PAIS) in a large eskimo kindred
RT caused by a delD690 mutation in the androgen receptor (AR) gene
RT (Abstract #244).";
RL Horm. Res. 41:117-117(1994).
RN [68]
RP VARIANTS CAIS PHE-582 DEL; ARG-615 DEL AND HIS-615.
RX MEDLINE=94214451; PubMed=8162033 [NCBI, ExPASy, EBI, Israel, Japan];
RA Beitel L.K., Prior L., Vasiliou D.M., Gottlieb B., Kaufman M.,
RA Lumbroso R., Alvarado C., McGillivray B., Trifiro M.A., Pinsky L.;
RT "Complete androgen insensitivity due to mutations in the probable
RT alpha-helical segments of the DNA-binding domain in the human androgen
RT receptor.";
RL Hum. Mol. Genet. 3:21-27(1994).
RN [69]
RP VARIANTS PAIS SER-582; TYR-604; ALA-708; LEU-754 AND HIS-771, AND
RP VARIANT CAIS TRP-779.
RX MEDLINE=95072584; PubMed=7981687 [NCBI, ExPASy, EBI, Israel, Japan];
RA Hiort O., Wodtke A., Struve D., Zoellner A., Sinnecker G.H.;
RT "Detection of point mutations in the androgen receptor gene using non-
RT isotopic single strand conformation polymorphism analysis.";
RL Hum. Mol. Genet. 3:1163-1166(1994).
RN [70]
RP VARIANT CAIS PHE-601.
RX MEDLINE=95072586; PubMed=7981689 [NCBI, ExPASy, EBI, Israel, Japan];
RA Baldazzi L., Baroncini C., Pirazzoli P., Balsamo A., Capelli M.,
RA Marchetti G., Bernardi F., Cacciari E.;
RT "Two mutations causing complete androgen insensitivity: a frame-shift
RT in the steroid binding domain and a Cys-->Phe substitution in the
RT second zinc finger of the androgen receptor.";
RL Hum. Mol. Genet. 3:1169-1170(1994).
RN [71]
RP VARIANTS PAIS ARG-616; HIS-840 AND MET-889.
RX MEDLINE=94171952; PubMed=8126121 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.78.3.513;
RA De Bellis A., Quigley C.A., Marschke K.B., el-Awady M.K., Lane M.V.,
RA Smith E.P., Sar M., Wilson E.M., French F.S.;
RT "Characterization of mutant androgen receptors causing partial
RT androgen insensitivity syndrome.";
RL J. Clin. Endocrinol. Metab. 78:513-522(1994).
RN [72]
RP VARIANT MAIS PHE-790.
RX MEDLINE=95051264; PubMed=7962294 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.79.4.1202;
RA Tsukada T., Inoue M., Tachibana S., Nakai Y., Takebe H.;
RT "An androgen receptor mutation causing androgen resistance in
RT undervirilized male syndrome.";
RL J. Clin. Endocrinol. Metab. 79:1202-1207(1994).
RN [73]
RP VARIANTS PAIS CYS-840 AND HIS-840.
RX MEDLINE=94314956; PubMed=8040309 [NCBI, ExPASy, EBI, Israel, Japan];
RA Beitel L.K., Kazemi-Esfarjani P., Kaufman M., Lumbroso R.,
RA DiGeorge A.M., Killinger D.W., Trifiro M.A., Pinsky L.;
RT "Substitution of arginine-839 by cysteine or histidine in the androgen
RT receptor causes different receptor phenotypes in cultured cells and
RT coordinate degrees of clinical androgen resistance.";
RL J. Clin. Invest. 94:546-554(1994).
RN [74]
RP VARIANTS CAIS, AND VARIANTS PAIS.
RX MEDLINE=95015035; PubMed=7929841 [NCBI, ExPASy, EBI, Israel, Japan];
RA Marcelli M., Zoppi S., Wilson C.M., Griffin J.E., McPhaul M.J.;
RT "Amino acid substitutions in the hormone-binding domain of the human
RT androgen receptor alter the stability of the hormone receptor
RT complex.";
RL J. Clin. Invest. 94:1642-1650(1994).
RN [75]
RP VARIANT MAIS LYS-727.
RX MEDLINE=94366236; PubMed=7993455 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0140-6736(94)92385-X;
RA Yong E.L., Ng S.C., Roy A.C., Yun G., Ratnam S.S.;
RT "Pregnancy after hormonal correction of severe spermatogenic defect
RT due to mutation in androgen receptor gene.";
RL Lancet 344:826-827(1994).
RN [76]
RP VARIANTS CAIS HIS-615 AND LEU-764, AND VARIANTS PAIS VAL-742 AND
RP THR-745.
RX MEDLINE=95061051; PubMed=7970939 [NCBI, ExPASy, EBI, Israel, Japan];
RA Ris-Stalpers C., Hoogenboezem T., Sleddens H.F.B.M.,
RA Verleun-Mooijman M.C.T., Degenhart H.J., Drop S.L.S., Halley D.J.J.,
RA Oosterwijk J.C., Hodgins M.B., Trapman J., Brinkmann A.O.;
RT "A practical approach to the detection of androgen receptor gene
RT mutations and pedigree analysis in families with X-linked androgen
RT insensitivity.";
RL Pediatr. Res. 36:227-234(1994).
RN [77]
RP VARIANT PAIS HIS-840.
RX MEDLINE=96113133; PubMed=8830623 [NCBI, ExPASy, EBI, Israel, Japan];
RA Imai A., Ohno T., Iida K., Ohsuye K., Okano Y., Tamaya T.;
RT "A frame-shift mutation of the androgen receptor gene in a patient
RT with receptor-negative complete testicular feminization: comparison
RT with a single base substitution in a receptor-reduced incomplete
RT form.";
RL Ann. Clin. Biochem. 32:482-486(1995).
RN [78]
RP VARIANTS PROSTATE CANCER.
RX MEDLINE=95228039; PubMed=7712463 [NCBI, ExPASy, EBI, Israel, Japan];
RA Takahashi H., Furusato M., Allsbrook W.C. Jr., Nishii H., Wakui S.,
RA Barrett J.C., Boyd J.;
RT "Prevalence of androgen receptor gene mutations in latent prostatic
RT carcinomas from Japanese men.";
RL Cancer Res. 55:1621-1624(1995).
RN [79]
RP VARIANT CAIS VAL-881.
RX MEDLINE=95368867; PubMed=7641413 [NCBI, ExPASy, EBI, Israel, Japan];
RA Davies H.R., Hughes I.A., Patterson M.N.;
RT "Genetic counselling in complete androgen insensitivity syndrome:
RT trinucleotide repeat polymorphisms, single-strand conformation
RT polymorphism and direct detection of two novel mutations in the
RT androgen receptor gene.";
RL Clin. Endocrinol. (Oxf.) 43:69-77(1995).
RN [80]
RP VARIANTS CAIS SER-705 AND HIS-763, AND VARIANTS PAIS LEU-725; THR-737;
RP HIS-774 AND GLU-798.
RX MEDLINE=95401910; PubMed=7671849 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/er.16.3.271;
RA Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M.,
RA French F.S.;
RT "Androgen receptor defects: historical, clinical, and molecular
RT perspectives.";
RL Endocr. Rev. 16:271-321(1995).
RN [81]
RP ERRATUM.
RA Quigley C.A., De Bellis A., Marschke K.B., el-Awady M.K., Wilson E.M.,
RA French F.S.;
RL Endocr. Rev. 16:546-546(1995).
RN [82]
RP VARIANTS CAIS LEU-831 AND GLN-831.
RX MEDLINE=95359952; PubMed=7633398 [NCBI, ExPASy, EBI, Israel, Japan];
RA Shkolny D.L., Brown T.R., Punnett H.H., Kaufman M., Trifiro M.A.,
RA Pinsky L.;
RT "Characterization of alternative amino acid substitutions at arginine
RT 830 of the androgen receptor that cause complete androgen
RT insensitivity in three families.";
RL Hum. Mol. Genet. 4:515-521(1995).
RN [83]
RP VARIANT CAIS PRO-677.
RX MEDLINE=95245337; PubMed=7537149 [NCBI, ExPASy, EBI, Israel, Japan];
RA Belsham D.D., Pereira F., Greenberg C.R., Liao S., Wrogemann K.;
RT "Leu-676-Pro mutation of the androgen receptor causes complete
RT androgen insensitivity syndrome in a large Hutterite kindred.";
RL Hum. Mutat. 5:28-33(1995).
RN [84]
RP VARIANT PAIS CYS-763, AND VARIANTS CAIS TRP-779; VAL-807 AND CYS-855.
RX MEDLINE=96047148; PubMed=7581399 [NCBI, ExPASy, EBI, Israel, Japan];
RA Murono K., Mendonca B.B., Arnhold I.J.P., Rigon A.C.M.M., Migeon C.J.,
RA Brown T.R.;
RT "Human androgen insensitivity due to point mutations encoding amino
RT acid substitutions in the androgen receptor steroid-binding domain.";
RL Hum. Mutat. 6:152-162(1995).
RN [85]
RP VARIANT PROSTATE CANCER MET-730.
RX MEDLINE=96074743; PubMed=7591265 [NCBI, ExPASy, EBI, Israel, Japan];
RA Peterziel H., Culig Z., Stober J., Hobisch A., Radmayr C., Bartsch G.,
RA Klocker H., Cato A.C.B.;
RT "Mutant androgen receptors in prostatic tumors distinguish between
RT amino-acid-sequence requirements for transactivation and ligand
RT binding.";
RL Int. J. Cancer 63:544-550(1995).
RN [86]
RP VARIANT PAIS VAL-568.
RX MEDLINE=95403657; PubMed=7673412 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.80.9.2697;
RA Allera A., Herbst M.A., Griffin J.E., Wilson J.D., Schweikert H.-U.,
RA McPhaul M.J.;
RT "Mutations of the androgen receptor coding sequence are infrequent in
RT patients with isolated hypospadias.";
RL J. Clin. Endocrinol. Metab. 80:2697-2699(1995).
RN [87]
RP VARIANT PROSTATE CANCER LEU-726.
RX MEDLINE=96094386; PubMed=8530589 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.80.12.3494;
RA Elo J.P., Kvist L., Leinonen K., Isomaa V., Henttu P., Lukkarinen O.,
RA Vihko P.;
RT "Mutated human androgen receptor gene detected in a prostatic cancer
RT patient is also activated by estradiol.";
RL J. Clin. Endocrinol. Metab. 80:3494-3500(1995).
RN [88]
RP VARIANT PAIS THR-596.
RX MEDLINE=95377517; PubMed=7649358 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0303-7207(95)03554-K;
RA Gast A., Neuschmid-Kaspar F., Klocker H., Cato A.C.B.;
RT "A single amino acid exchange abolishes dimerization of the androgen
RT receptor and causes Reifenstein syndrome.";
RL Mol. Cell. Endocrinol. 111:93-98(1995).
RN [89]
RP VARIANTS PROSTATE CANCER.
RX MEDLINE=95240676; PubMed=7723794 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1056/NEJM199505253322101;
RA Taplin M.-E., Bubley G.J., Shuster T.D., Frantz M.E., Spooner A.E.,
RA Ogata G.K., Keer H.N., Balk S.P.;
RT "Mutation of the androgen-receptor gene in metastatic androgen-
RT independent prostate cancer.";
RL N. Engl. J. Med. 332:1393-1398(1995).
RN [90]
RP VARIANTS CAIS AND PAIS.
RX MEDLINE=96298278; PubMed=8723113 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1002/(SICI)1096-8628(19960503)63:1<218::AID-AJMG38>3.0.CO;2-P;
RA Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.;
RT "The clinical and molecular spectrum of androgen insensitivity
RT syndromes.";
RL Am. J. Med. Genet. 63:218-222(1996).
RN [91]
RP VARIANTS PROSTATE CANCER.
RX MEDLINE=99035018; PubMed=9816170 [NCBI, ExPASy, EBI, Israel, Japan];
RA Tilley W.D., Buchanan G., Hickey T.E., Bentel J.M.;
RT "Mutations in the androgen receptor gene are associated with
RT progression of human prostate cancer to androgen independence.";
RL Clin. Cancer Res. 2:277-285(1996).
RN [92]
RP VARIANTS PAIS GLN-607; THR-610; LEU-754; HIS-840; THR-842 AND HIS-855,
RP AND VARIANT CAIS MET-866.
RX MEDLINE=97191382; PubMed=9039340 [NCBI, ExPASy, EBI, Israel, Japan];
RA Weidemann W., Linck B., Haupt H., Mentrup B., Romalo G.,
RA Stockklauser K., Brinkmann A.O., Schweikert H.-U., Spindler K.D.;
RT "Clinical and biochemical investigations and molecular analysis of
RT subjects with mutations in the androgen receptor gene.";
RL Clin. Endocrinol. (Oxf.) 45:733-739(1996).
RN [93]
RP VARIANT CAIS CYS-855.
RX MEDLINE=97155085; PubMed=9001799 [NCBI, ExPASy, EBI, Israel, Japan];
RA Malmgren H., Gustavsson J., Tuvemo T., Dahl N.;
RT "Rapid detection of a mutation hot-spot in the human androgen
RT receptor.";
RL Clin. Genet. 50:202-205(1996).
RN [94]
RP VARIANTS PAIS ILE-742; ILE-780; GLU-798; CYS-840; HIS-855 AND MET-869.
RX MEDLINE=96422266; PubMed=8824883 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1093/hmg/5.2.265;
RA Bevan C.L., Brown B.B., Davies H.R., Evans B.A.J., Hughes I.A.,
RA Patterson M.N.;
RT "Functional analysis of six androgen receptor mutations identified in
RT patients with partial androgen insensitivity syndrome.";
RL Hum. Mol. Genet. 5:265-273(1996).
RN [95]
RP VARIANT PAIS ARG-909.
RX MEDLINE=96141994; PubMed=8550758 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.81.1.236;
RA Choong C.S., Sturm M.J., Strophair J.A., McCulloch R.K., Tilley W.D.,
RA Leedman P.J., Hurley D.M.;
RT "Partial androgen insensitivity caused by an androgen receptor
RT mutation at amino acid 907 (Gly-->Arg) that results in decreased
RT ligand binding affinity and reduced androgen receptor messenger
RT ribonucleic acid levels.";
RL J. Clin. Endocrinol. Metab. 81:236-243(1996).
RN [96]
RP VARIANT CAIS ARG-707.
RX MEDLINE=96210890; PubMed=8626869 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.81.5.1984;
RA Lumbroso S., Lobaccaro J.-M., Georget V., Leger J., Poujol N.,
RA Terouanne B., Evain-Brion D., Czernichow P., Sultan C.;
RT "A novel substitution (Leu707Arg) in exon 4 of the androgen receptor
RT gene causes complete androgen resistance.";
RL J. Clin. Endocrinol. Metab. 81:1984-1988(1996).
RN [97]
RP VARIANT PAIS/CAIS ILE-780.
RX MEDLINE=96320094; PubMed=8768864 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.81.8.2994;
RA Rodien P., Mebarki F., Mowszowicz I., Chaussain J.L., Young J.,
RA Morel Y., Schaison G.;
RT "Different phenotypes in a family with androgen insensitivity caused
RT by the same M780I point mutation in the androgen receptor gene.";
RL J. Clin. Endocrinol. Metab. 81:2994-2998(1996).
RN [98]
RP VARIANT PAIS LYS-2.
RX MEDLINE=96420610; PubMed=8823308 [NCBI, ExPASy, EBI, Israel, Japan];
RA Choong C.S., Quigley C.A., French F.S., Wilson E.M.;
RT "A novel missense mutation in the amino-terminal domain of the human
RT androgen receptor gene in a family with partial androgen insensitivity
RT syndrome causes reduced efficiency of protein translation.";
RL J. Clin. Invest. 98:1423-1431(1996).
RN [99]
RP VARIANT CAIS ASP-573.
RX MEDLINE=97078859; PubMed=8918984 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0960-0760(96)00095-7;
RA Bruggenwirth H.T., Boehmer A.L.M., Verleun-Mooijman M.C.T.,
RA Hoogenboezem T., Kleijer W.J., Otten B.J., Trapman J., Brinkmann A.O.;
RT "Molecular basis of androgen insensitivity.";
RL J. Steroid Biochem. Mol. Biol. 58:569-575(1996).
RN [100]
RP VARIANT MAIS SER-548.
RX MEDLINE=96289452; PubMed=8683794 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1097/00005392-199608001-00077;
RA Sutherland R.W., Wiener J.S., Hicks J.P., Marcelli M.,
RA Gonzales E.T. Jr., Roth D.R., Lamb D.J.;
RT "Androgen receptor gene mutations are rarely associated with isolated
RT penile hypospadias.";
RL J. Urol. 156:828-831(1996).
RN [101]
RP VARIANT CAIS PRO-616.
RX MEDLINE=96231386; PubMed=8647313 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0303-7207(95)03709-8;
RA Lobaccaro J.-M., Poujol N., Chiche L., Lumbroso S., Brown T.R.,
RA Sultan C.;
RT "Molecular modeling and in vitro investigations of the human androgen
RT receptor DNA-binding domain: application for the study of two
RT mutations.";
RL Mol. Cell. Endocrinol. 116:137-147(1996).
RN [102]
RP VARIANT CAIS PHE-579, AND VARIANT PAIS TYR-582.
RX MEDLINE=96405605; PubMed=8809734 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/0303-7207(96)03812-9;
RA Imasaki K., Okabe T., Murakami H., Tanaka Y., Haji M., Takayanagi R.,
RA Nawata H.;
RT "Androgen insensitivity syndrome due to new mutations in the DNA-
RT binding domain of the androgen receptor.";
RL Mol. Cell. Endocrinol. 120:15-24(1996).
RN [103]
RP VARIANT PROSTATE CANCER GLU-798.
RX MEDLINE=96235947; PubMed=8628719 [NCBI, ExPASy, EBI, Israel, Japan];
RA Evans B.A.J., Harper M.E., Daniells C.E., Watts C.E., Matenhelia S.,
RA Green J., Griffiths K.;
RT "Low incidence of androgen receptor gene mutations in human prostatic
RT tumors using single strand conformation polymorphism analysis.";
RL Prostate 28:162-171(1996).
RN [104]
RP VARIANT PROSTATE CANCER ALA-877.
RX MEDLINE=96424622; PubMed=8827083 [NCBI, ExPASy, EBI, Israel, Japan];
RA Suzuki H., Akakura K., Komiya A., Aida S., Akimoto S., Shimazaki J.;
RT "Codon 877 mutation in the androgen receptor gene in advanced prostate
RT cancer: relation to antiandrogen withdrawal syndrome.";
RL Prostate 29:153-158(1996).
RN [105]
RP VARIANT PAIS HIS-855.
RX MEDLINE=97260430; PubMed=9106550 [NCBI, ExPASy, EBI, Israel, Japan];
RA Boehmer A.L.M., Brinkmann A.O., Niermeijer M.F., Bakker L.,
RA Halley D.J.J., Drop S.L.S.;
RT "Germ-line and somatic mosaicism in the androgen insensitivity
RT syndrome: implications for genetic counseling.";
RL Am. J. Hum. Genet. 60:1003-1006(1997).
RN [106]
RP VARIANT PROSTATE CANCER ALA-683.
RX MEDLINE=97153285; PubMed=9000575 [NCBI, ExPASy, EBI, Israel, Japan];
RA Koivisto P., Kononen J., Palmberg C., Tammela T., Hyytinen E.,
RA Isola J., Trapman J., Cleutjens K., Noordzij A., Visakorpi T.,
RA Kallioniemi O.-P.;
RT "Androgen receptor gene amplification: a possible molecular mechanism
RT for androgen deprivation therapy failure in prostate cancer.";
RL Cancer Res. 57:314-319(1997).
RN [107]
RP VARIANTS PAIS LYS-608 AND GLY-772.
RX MEDLINE=97340104; PubMed=9196614 [NCBI, ExPASy, EBI, Israel, Japan];
RA Tincello D.G., Saunders P.T., Hodgins M.B., Simpson N.B.,
RA Edwards C.R., Hargreaves T.B., Wu F.C.;
RT "Correlation of clinical, endocrine and molecular abnormalities with
RT in vivo responses to high-dose testosterone in patients with partial
RT androgen insensitivity syndrome.";
RL Clin. Endocrinol. (Oxf.) 46:497-506(1997).
RN [108]
RP VARIANT PAIS MET-889.
RX MEDLINE=97303883; PubMed=9160185 [NCBI, ExPASy, EBI, Israel, Japan];
RA Essawi M., Gad Y.Z., el-Rouby O., Temtamy S.A., Sabour Y.A.,
RA el-Awady M.K.;
RT "Molecular analysis of androgen resistance syndromes in Egyptian
RT patients.";
RL Dis. Markers 13:99-105(1997).
RN [109]
RP VARIANT CAIS TRP-779.
RX MEDLINE=97159966; PubMed=9007482 [NCBI, ExPASy, EBI, Israel, Japan];
RA Sinnecker G.H., Hiort O., Nitsche E.M., Holterhus P.M., Kruse K.;
RT "Functional assessment and clinical classification of androgen
RT sensitivity in patients with mutations of the androgen receptor
RT gene.";
RL Eur. J. Pediatr. 156:7-14(1997).
RN [110]
RP VARIANTS CAIS VAL-749; CYS-774; ILE-780 AND SER-794.
RX MEDLINE=97144184; PubMed=8990010 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1002/(SICI)1098-1004(1997)9:1<57::AID-HUMU10>3.3.CO;2-0;
RA Jakubiczka S., Nedel S., Werder E.A., Schleiermacher E., Theile U.,
RA Wolff G., Wieacker P.;
RT "Mutations of the androgen receptor gene in patients with complete
RT androgen insensitivity.";
RL Hum. Mutat. 9:57-61(1997).
RN [111]
RP VARIANTS PROSTATE CANCER IN POLY-GLN REGION; HIS-701 AND ARG-910.
RX MEDLINE=98100812; PubMed=9438000 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1093/jjco/27.6.389;
RA Watanabe M., Ushijima T., Shiraishi T., Yatani R., Shimazaki J.,
RA Kotake T., Sugimura T., Nagao M.;
RT "Genetic alterations of androgen receptor gene in Japanese human
RT prostate cancer.";
RL Jpn. J. Clin. Oncol. 27:389-393(1997).
RN [112]
RP VARIANT PROSTATE CANCER GLN-629.
RX MEDLINE=97327856; PubMed=9184448 [NCBI, ExPASy, EBI, Israel, Japan];
RA Wang C., Uchida T.;
RT "Androgen receptor gene mutations in prostate cancer.";
RL Jpn. J. Urol. 88:550-556(1997).
RN [113]
RP VARIANTS CAIS ARG-194 AND CYS-855.
RX MEDLINE=97398857; PubMed=9255042 [NCBI, ExPASy, EBI, Israel, Japan];
RA Komori S., Sakata K., Tanaka H., Shima H., Koyama K.;
RT "DNA analysis of the androgen receptor gene in two cases with complete
RT androgen insensitivity syndrome.";
RL J. Obstet. Gynaecol. Res. 23:277-281(1997).
RN [114]
RP VARIANTS PAIS ALA-708 AND GLY-870.
RX MEDLINE=97469997; PubMed=9329414 [NCBI, ExPASy, EBI, Israel, Japan];
RA Albers N., Ulrichs C., Gluer S., Hiort O., Sinnecker G.H.,
RA Mildenberger H., Brodehl J.;
RT "Etiologic classification of severe hypospadias: implications for
RT prognosis and management.";
RL J. Pediatr. 131:386-392(1997).
RN [115]
RP VARIANTS CAIS ASN-732 AND THR-765.
RX MEDLINE=97396769; PubMed=9252933 [NCBI, ExPASy, EBI, Israel, Japan];
RA Ko T.M., Yang Y.S., Wu M.Y., Kao C.H., Hsu P.M., Chuang S.M.,
RA Lee T.Y.;
RT "Complete androgen insensitivity syndrome. Molecular characterization
RT in two Chinese women.";
RL J. Reprod. Med. 42:424-428(1997).
RN [116]
RP VARIANTS CAIS ASP-750; PHE-762; THR-765; ASN-864 AND PHE-907.
RX MEDLINE=97466866; PubMed=9328206 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0960-0760(97)00001-0;
RA Bevan C.L., Hughes I.A., Patterson M.N.;
RT "Wide variation in androgen receptor dysfunction in complete androgen
RT insensitivity syndrome.";
RL J. Steroid Biochem. Mol. Biol. 61:19-26(1997).
RN [117]
RP VARIANT PAIS GLY-703, AND VARIANT CAIS LEU-916.
RX MEDLINE=97445885; PubMed=9302173 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1097/00005392-199710000-00075;
RA Radmayr C., Culig Z., Glatzl J., Neuschmid-Kaspar F., Bartsch G.,
RA Klocker H.;
RT "Androgen receptor point mutations as the underlying molecular defect
RT in 2 patients with androgen insensitivity syndrome.";
RL J. Urol. 158:1553-1556(1997).
RN [118]
RP VARIANTS CAIS CYS-571; GLN-752 AND CYS-774.
RX MEDLINE=98206019; PubMed=9544375 [NCBI, ExPASy, EBI, Israel, Japan];
RA Komori S., Kasumi H., Sakata K., Tanaka H., Hamada K., Koyama K.;
RT "Molecular analysis of the androgen receptor gene in 4 patients with
RT complete androgen insensitivity.";
RL Arch. Gynecol. Obstet. 261:95-100(1998).
RN [119]
RP VARIANTS CAIS HIS-615 AND GLN-752.
RX MEDLINE=98363978; PubMed=9698822 [NCBI, ExPASy, EBI, Israel, Japan];
RA Cabral D.F., Maciel-Guerra A.T., Hackel C.;
RT "Mutations of androgen receptor gene in Brazilian patients with male
RT pseudohermaphroditism.";
RL Braz. J. Med. Biol. Res. 31:775-778(1998).
RN [120]
RP VARIANT MAIS ARG-214.
RX MEDLINE=99002768; PubMed=9788719 [NCBI, ExPASy, EBI, Israel, Japan];
RA Wang Q., Ghadessy F.J., Yong E.L.;
RT "Analysis of the transactivation domain of the androgen receptor in
RT patients with male infertility.";
RL Clin. Genet. 54:185-192(1998).
RN [121]
RP VARIANTS CAIS PRO-255 AND ALA-820.
RX MEDLINE=98273339; PubMed=9610419 [NCBI, ExPASy, EBI, Israel, Japan];
RA Tanaka H., Komori S., Sakata K., Shima H., Koyama K.;
RT "One additional mutation at exon A amplifies thermolability of
RT androgen receptor in a case with complete androgen insensitivity
RT syndrome.";
RL Gynecol. Endocrinol. 12:75-82(1998).
RN [122]
RP VARIANTS CAIS THR-765; TYR-784 AND THR-895, AND VARIANT PAIS GLY-840.
RX MEDLINE=99072324; PubMed=9856504 [NCBI, ExPASy, EBI, Israel, Japan];
RA Lundberg Giwercman Y., Nikoshkov A., Lindsten K., Bystroem B.,
RA Pousette A., Chibalin A.V., Arvidsson S., Tiulpakov A.,
RA Semitcheva T.V., Peterkova V., Hagenfeldt K., Ritzen E.M., Wedell A.;
RT "Functional characterisation of mutations in the ligand-binding domain
RT of the androgen receptor gene in patients with androgen insensitivity
RT syndrome.";
RL Hum. Genet. 103:529-531(1998).
RN [123]
RP VARIANT CAIS VAL-695.
RX MEDLINE=98213476; PubMed=9554754 [NCBI, ExPASy, EBI, Israel, Japan];
RA Doerk T., Schnieders F., Jakubiczka S., Wieacker P.,
RA Schroeder-Kurth T., Schmidtke J.;
RT "A new missense substitution at a mutational hot spot of the androgen
RT receptor in siblings with complete androgen insensitivity syndrome.";
RL Hum. Mutat. 11:337-339(1998).
RN [124]
RP VARIANT ASP-645.
RX MEDLINE=98213477; PubMed=9554755 [NCBI, ExPASy, EBI, Israel, Japan];
RA Nordenskjoeld A., Soederhaell S.;
RT "An androgen receptor gene mutation (A645D) in a boy with a normal
RT phenotype.";
RL Hum. Mutat. 11:339-339(1998).
RN [125]
RP VARIANT CAIS LEU-892.
RA Knoke I., Jakubiczka S., Rohrer T., Hanimann B., Werder E.A.,
RA Wieacker P.;
RT "Single amino acid substitution in the hormone-binding domain of the
RT androgen receptor in a family with complete androgen insensitivity
RT syndrome (CAIS).";
RL Hum. Mutat. 12:220-220(1998).
RN [126]
RP VARIANT PAIS GLN-607.
RX MEDLINE=98202136; PubMed=9543136 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.83.4.1173;
RA Weidemann W., Peters B., Romalo G., Spindler K.D., Schweikert H.-U.;
RT "Response to androgen treatment in a patient with partial androgen
RT insensitivity and a mutation in the deoxyribonucleic acid-binding
RT domain of the androgen receptor.";
RL J. Clin. Endocrinol. Metab. 83:1173-1176(1998).
RN [127]
RP VARIANTS PAIS VAL-743 AND CYS-840.
RX MEDLINE=98439607; PubMed=9768671 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.83.10.3597;
RA Georget V., Terouanne B., Lumbroso S., Nicolas J.C., Sultan C.;
RT "Trafficking of androgen receptor mutants fused to green fluorescent
RT protein: a new investigation of partial androgen insensitivity
RT syndrome.";
RL J. Clin. Endocrinol. Metab. 83:3597-3603(1998).
RN [128]
RP VARIANT MAIS GLU-798.
RX MEDLINE=99067093; PubMed=9851768 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.83.12.4303;
RA Wang Q., Ghadessy F.J., Trounson A., de Kretser D., McLachlan R.,
RA Ng S.C., Yong E.L.;
RT "Azoospermia associated with a mutation in the ligand-binding domain
RT of an androgen receptor displaying normal ligand binding, but
RT defective trans-activation.";
RL J. Clin. Endocrinol. Metab. 83:4303-4309(1998).
RN [129]
RP VARIANTS CAIS AND PAIS.
RX MEDLINE=98291052; PubMed=9627582 [NCBI, ExPASy, EBI, Israel, Japan];
RA Hiort O., Sinnecker G.H., Holterhus P.M., Nitsche E.M., Kruse K.;
RT "Inherited and de novo androgen receptor gene mutations: investigation
RT of single-case families.";
RL J. Pediatr. 132:939-943(1998).
RN [130]
RP VARIANT PAIS THR-758.
RX MEDLINE=98268743; PubMed=9607727 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0303-7207(97)00229-3;
RA Yong E.L., Tut T.G., Ghadessy F.J., Prins G., Ratnam S.S.;
RT "Partial androgen insensitivity and correlations with the predicted
RT three dimensional structure of the androgen receptor ligand-binding
RT domain.";
RL Mol. Cell. Endocrinol. 137:41-50(1998).
RN [131]
RP VARIANT PAIS LEU-911.
RX MEDLINE=99399430; PubMed=10470409 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1046/j.1439-0272.1999.00278.x;
RA Knoke I., Jakubiczka S., Lehnert H., Wieacker P.;
RT "A new point mutation of the androgen receptor gene in a patient with
RT partial androgen resistance and severe oligozoospermia.";
RL Andrologia 31:199-201(1999).
RN [132]
RP VARIANTS PROSTATE CANCER ALA-877 AND ASN-890.
RX MEDLINE=99290631; PubMed=10363963 [NCBI, ExPASy, EBI, Israel, Japan];
RA Taplin M.-E., Bubley G.J., Ko Y.J., Small E.J., Upton M.,
RA Rajeshkumar B., Balk S.P.;
RT "Selection for androgen receptor mutations in prostate cancers treated
RT with androgen antagonist.";
RL Cancer Res. 59:2511-2515(1999).
RN [133]
RP VARIANT PAIS SER-840.
RX MEDLINE=99434369; PubMed=10502786 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7;
RA Melo K.F.S., Latronico A.C., Costa E.M.F., Billerbeck A.E.C.,
RA Mendonca B.B., Arnhold I.J.P.;
RT "A novel point mutation (R840S) in the androgen receptor in a
RT Brazilian family with partial androgen insensitivity syndrome.";
RL Hum. Mutat. 14:353-353(1999).
RN [134]
RP VARIANTS CAIS ARG-390 AND ARG-443.
RX MEDLINE=20040031; PubMed=10571951 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X;
RA Gottlieb B., Vasiliou D.M., Lumbroso R., Beitel L.K., Pinsky L.,
RA Trifiro M.A.;
RT "Analysis of exon 1 mutations in the androgen receptor gene.";
RL Hum. Mutat. 14:527-539(1999).
RN [135]
RP VARIANT PAIS GLN-607, AND VARIANT CAIS LYS-681.
RX MEDLINE=99236881; PubMed=10221692 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1093/humrep/14.3.664;
RA Chen C.P., Chern S.R., Wang T.Y., Wang W., Wang K.L., Jeng C.J.;
RT "Androgen receptor gene mutations in 46,XY females with germ cell
RT tumours.";
RL Hum. Reprod. 14:664-670(1999).
RN [136]
RP VARIANT CAIS LEU-892.
RX MEDLINE=99332382; PubMed=10404311 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1046/j.1442-2042.1999.00065.x;
RA Kanayama H., Naroda T., Inoue Y., Kurokawa Y., Kagawa S.;
RT "A case of complete testicular feminization: laparoscopic orchiectomy
RT and analysis of androgen receptor gene mutation.";
RL Int. J. Urol. 6:327-330(1999).
RN [137]
RP VARIANT PAIS ALA-772, AND VARIANT MAIS GLY-871.
RX MEDLINE=99145056; PubMed=10022458 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.84.2.805;
RA Shkolny D.L., Beitel L.K., Ginsberg J., Pekeles G., Arbour L.,
RA Pinsky L., Trifiro M.A.;
RT "Discordant measures of androgen-binding kinetics in two mutant
RT androgen receptors causing mild or partial androgen insensitivity,
RT respectively.";
RL J. Clin. Endocrinol. Metab. 84:805-810(1999).
RN [138]
RP VARIANTS PROSTATE CANCER IN POLY-GLN REGION AND ALA-683.
RX MEDLINE=20096941; PubMed=10629558 [NCBI, ExPASy, EBI, Israel, Japan];
RA Wallen M.J., Linja M., Kaartinen K., Schleutker J., Visakorpi T.;
RT "Androgen receptor gene mutations in hormone-refractory prostate
RT cancer.";
RL J. Pathol. 189:559-563(1999).
RN [139]
RP VARIANTS PROSTATE CANCER HIS-701 AND ALA-877.
RX MEDLINE=20034906; PubMed=10569618 [NCBI, ExPASy, EBI, Israel, Japan];
RA Zhao X.Y., Boyle B., Krishnan A.V., Navone N.M., Peehl D.M.,
RA Feldman D.;
RT "Two mutations identified in the androgen receptor of the new human
RT prostate cancer cell line MDA PCa 2a.";
RL J. Urol. 162:2192-2199(1999).
RN [140]
RP VARIANT PAIS THR-807.
RX MEDLINE=20009021; PubMed=10543676 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0140-6736(99)03205-5;
RA Ong Y.C., Wong H.B., Adaikan G., Yong E.L.;
RT "Directed pharmacological therapy of ambiguous genitalia due to an
RT androgen receptor gene mutation.";
RL Lancet 354:1444-1445(1999).
RN [141]
RP VARIANT CAIS LEU-892.
RX MEDLINE=99236959; PubMed=10221770 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1016/S0303-7207(98)00237-8;
RA Peters I., Weidemann W., Romalo G., Knorr D., Schweikert H.-U.,
RA Spindler K.D.;
RT "An androgen receptor mutation in the direct vicinity of the proposed
RT C-terminal alpha-helix of the ligand binding domain containing the AF-
RT 2 transcriptional activating function core is associated with complete
RT androgen insensitivity.";
RL Mol. Cell. Endocrinol. 148:47-53(1999).
RN [142]
RP VARIANT PROSTATE CANCER TYR-619.
RX MEDLINE=20065641; PubMed=10598582 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/me.13.12.2065;
RA Nazareth L.V., Stenoien D.L., Bingman W.E. III, James A.J., Wu C.,
RA Zhang Y., Edwards D.P., Mancini M., Marcelli M., Lamb D.J.,
RA Weigel N.L.;
RT "A C619Y mutation in the human androgen receptor causes inactivation
RT and mislocalization of the receptor with concomitant sequestration of
RT SRC-1.";
RL Mol. Endocrinol. 13:2065-2075(1999).
RN [143]
RP ERRATUM.
RA Nazareth L.V., Stenoien D.L., Bingman W.E. III, James A.J., Wu C.,
RA Zhang Y., Edwards D.P., Mancini M., Marcelli M., Lamb D.J.,
RA Weigel N.L.;
RL Mol. Endocrinol. 14:544-544(2000).
RN [144]
RP VARIANT PAIS THR-596.
RX MEDLINE=20055969; PubMed=10590024 [NCBI, ExPASy, EBI, Israel, Japan];
RA Holterhus P.M., Wiebel J., Sinnecker G.H., Bruggenwirth H.T.,
RA Sippell W.G., Brinkmann A.O., Kruse K., Hiort O.;
RT "Clinical and molecular spectrum of somatic mosaicism in androgen
RT insensitivity syndrome.";
RL Pediatr. Res. 46:684-690(1999).
RN [145]
RP VARIANT PAIS PHE-812, AND VARIANT CAIS GLN-831.
RX MEDLINE=99385665; PubMed=10458483 [NCBI, ExPASy, EBI, Israel, Japan];
RA Yaegashi N., Uehara S., Senoo M., Sato J., Fujiwara J., Funato T.,
RA Sasaki T., Yajima A.;
RT "Point mutations in the steroid-binding domain of the androgen
RT receptor gene of five Japanese patients with androgen insensitivity
RT syndrome.";
RL Tohoku J. Exp. Med. 187:263-272(1999).
RN [146]
RP VARIANTS PAIS THR-597 AND LEU-725.
RX MEDLINE=99190574; PubMed=10092153 [NCBI, ExPASy, EBI, Israel, Japan];
RA Nordenskjoeld A., Friedman E., Tapper-Persson M., Soederhaell C.,
RA Leviav A., Svensson J., Anvret M.;
RT "Screening for mutations in candidate genes for hypospadias.";
RL Urol. Res. 27:49-55(1999).
RN [147]
RP VARIANTS PROSTATE CANCER ALA-575; ARG-580; VAL-586; TYR-619; ALA-757
RP AND GLY-846.
RX MEDLINE=20168626; PubMed=10706109 [NCBI, ExPASy, EBI, Israel, Japan];
RA Marcelli M., Ittmann M., Mariani S., Sutherland R.W., Nigam R.,
RA Murthy L., Zhao Y., DiConcini D., Puxeddu E., Esen A., Eastham J.,
RA Weigel N.L., Lamb D.J.;
RT "Androgen receptor mutations in prostate cancer.";
RL Cancer Res. 60:944-949(2000).
RN [148]
RP VARIANTS CAIS AND PAIS.
RX MEDLINE=20152731; PubMed=10690872 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1210/jc.85.2.658;
RA Ahmed S.F., Cheng A., Dovey L., Hawkins J.R., Martin H., Rowland J.,
RA Shimura N., Tait A.D., Hughes I.A.;
RT "Phenotypic features, androgen receptor binding, and mutational
RT analysis in 278 clinical cases reported as androgen insensitivity
RT syndrome.";
RL J. Clin. Endocrinol. Metab. 85:658-665(2000).
RN [149]
RP VARIANTS PAIS THR-682 AND GLU-711, VARIANTS CAIS GLU-743; VAL-827 AND
RP ARG-874, AND VARIANT MAIS TYR-879.
RX MEDLINE=21470699; PubMed=11587068 [NCBI, ExPASy, EBI, Israel, Japan];
RA Chavez B., Mendez J.P., Ulloa-Aguirre A., Larrea F., Vilchis F.;
RT "Eight novel mutations of the androgen receptor gene in patients with
RT androgen insensitivity syndrome.";
RL J. Hum. Genet. 46:560-565(2001).
RN [150]
RP VARIANT CAIS TYR-705.
RX MEDLINE=21610990; PubMed=11744994 [NCBI, ExPASy, EBI, Israel, Japan];
RA Sills E.S., Sholes T.E., Perloe M., Kaplan C.R., Davis J.G.,
RA Tucker M.J.;
RT "Characterization of a novel receptor mutation A->T at exon 4 in
RT complete androgen insensitivity syndrome and a carrier sibling via
RT bidirectional polymorphism sequence analysis.";
RL Int. J. Mol. Med. 9:45-48(2002).
CC -!- FUNCTION: The steroid hormones and their receptors are involved in
CC the regulation of eukaryotic gene expression and affect cellular
CC proliferation and differentiation in target tissues. Activated,
CC but not phosphorylated, by HIPK3.
CC -!- SUBUNIT: Interacts with HIPK3 in the presence of androgen (By
CC similarity). Binds DNA as a homodimer. The AR N-terminal poly-Gln
CC region binds RAN resulting in enhancement of AR-mediated
CC transactivation. RAN binding decreases as the poly-Gln length
CC increases. Interacts with RANBP9.
CC -!- SUBCELLULAR LOCATION: Nuclear.
CC -!- DOMAIN: Composed of three domains: a modulating N-terminal domain,
CC a DNA-binding domain and a C-terminal steroid-binding domain.
CC Interaction with RANBP9 is mediated by both the N-terminal domain
CC and the DNA-binding domain.
CC -!- POLYMORPHISM: The poly-Gln region of AR is highly polymorphic and
CC the number of Gln varies in the population (from 17 to 26). A
CC smaller size of the poly-Gln region may be associated with the
CC development of prostate cancer.
CC -!- POLYMORPHISM: The poly-Gly region of AR is also polymorphic and
CC ranges from 24 to 31 Gly.
CC -!- DISEASE: Defects in AR are the cause of androgen insensibility
CC syndrome (AIS) [MIM:300068]; previously known as testicular
CC feminization syndrome (TFM). It can be complete (CAIS) when
CC external genitalia are phenotypically female; or partial (PAIS)
CC when external genitalia are substantively ambiguous or mild (MAIS)
CC when external genitalia are normal male or nearly so.
CC -!- DISEASE: Defects in AR are the cause of X-linked spinal and bulbar
CC muscular atrophy (SBMA) [MIM:313200]; also known as Kennedy's
CC disease. In SBMA patients the number of Gln ranges from 40 to 52.
CC Longer expansions result in earlier onset and more severe clinical
CC manifestations of the disease.
CC -!- DISEASE: Defects in AR may play a role in metastatic prostate
CC cancer. The mutated receptor stimulates prostate growth and
CC metastases development despite of androgen ablation. This
CC treatment can reduce primary and metastatic lesions probably by
CC inducing apoptosis of tumor cells when they express the wild-type
CC receptor.
CC -!- DISEASE: Defects in AR may be the cause of infertility male
CC syndrome [MIM:308370]; also called androgen insensitivity. It is
CC characterized by azoospermia, elevated testosterone and
CC luteinizing hormone plasma levels and an abnormal androgen
CC receptor.
CC -!- DISEASE: Defects in AR are the cause of Reifenstein syndrome
CC [MIM:312300]; also known as partial androgen insensitivity. The
CC features of this form of male pseudohermaphroditism are
CC hypospadias, hypogonadism, gynecomastia, normal XY karyotype, and
CC a pedigree pattern consistent with X-linked recessive inheritance.
CC -!- MISCELLANEOUS: In the absence of ligand, steroid hormone receptors
CC are thought to be weakly associated with nuclear components;
CC hormone binding greatly increases receptor affinity. The hormone-
CC receptor complex appears to recognize discrete DNA sequences
CC upstream of transcriptional start sites.
CC -!- MISCELLANEOUS: Transcriptional activity is enhanced by binding to
CC RANBP9.
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family. NR3
CC subfamily.
CC -!- SIMILARITY: Contains 1 nuclear receptor DNA-binding domain.
CC -!- DATABASE: NAME=Androgen receptor gene mutations database;
CC WWW="http://www.mcgill.ca/androgendb/".
CC --------------------------------------------------------------------------
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use as long as its content is in no way modified and this statement is not
CC removed.
CC --------------------------------------------------------------------------
DR EMBL; M20132; AAA51729.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M23263; AAA51775.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M34233; AAA51780.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27430; AAA51886.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27423; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27424; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27425; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27426; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27427; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27428; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M27429; AAA51886.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M21748; AAA51771.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35851; AAA51772.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35844; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35845; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35846; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35847; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35848; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35849; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M35850; AAA51772.1; JOINED. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; L29496; AAA51770.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; M20260; AAA51774.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; S79366; AAB21256.2; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; S79366; AAB21257.2; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR EMBL; U16371; AAB60346.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR PIR; A39248; A39248.
DR PDB; 1E3G; X-ray; A=657-919. [ExPASy / RCSB]
DR PDB; 1GS4; X-ray; A=670-917. [ExPASy / RCSB]
DR SMR; P10275; 555-628.
DR TRANSFAC; T00040; -.
DR Ensembl; ENSG00000169083; Homo_sapiens
DR Genew; HGNC:644; AR.
DR CleanEx; HGNC:644; AR.
DR MIM; 313700; -. [NCBI / EBI]
DR GeneCards; AR.
DR GeneLynx; AR.
DR GenAtlas; AR.
DR SOURCE; AR.
DR MIM; 300068; -. [NCBI / EBI]
DR MIM; 313200; -. [NCBI / EBI]
DR MIM; 308370; -. [NCBI / EBI]
DR MIM; 312300; -. [NCBI / EBI]
DR GO; GO:0005497; F:androgen binding; NAS.
DR GO; GO:0004882; F:androgen receptor activity; NAS.
DR GO; GO:0003677; F:DNA binding; NAS.
DR GO; GO:0046983; F:protein dimerization activity; NAS.
DR GO; GO:0008283; P:cell proliferation; NAS.
DR GO; GO:0007267; P:cell-cell signaling; TAS.
DR GO; GO:0030850; P:prostate gland development; NAS.
DR GO; GO:0007548; P:sex differentiation; NAS.
DR GO; GO:0007165; P:signal transduction; TAS.
DR GO; GO:0006810; P:transport; TAS.
DR InterPro; IPR001103; Andrgn_receptor.
DR InterPro; IPR000536; Hrmon_recept_lig.
DR InterPro; IPR008946; Str_ncl_receptor.
DR InterPro; IPR001628; Znf_C4steroid.
DR InterPro; Graphical view of domain structure.
DR Pfam; PF02166; Androgen_recep; 1.
DR Pfam; PF00104; Hormone_recep; 1.
DR Pfam; PF00105; zf-C4; 1.
DR Pfam; Graphical view of domain structure.
DR PRINTS; PR00521; ANDROGENR.
DR PRINTS; PR00047; STROIDFINGER.
DR ProDom; PD000035; Znf_C4steroid; 1.
DR ProDom [Domain structure / List of seq. sharing at least 1 domain ]
DR PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
DR CMR; P10275.
DR HOVERGEN [Family / Alignment / Tree]
DR BLOCKS; P10275.
DR ProtoNet; P10275.
DR ProtoMap; P10275.
DR PRESAGE; P10275.
DR DIP; P10275.
DR ModBase; P10275.
DR SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW 3D-structure; Disease mutation; DNA-binding; Nuclear protein;
KW Polymorphism; Receptor; Steroid-binding; Transcription;
KW Transcription regulation; Triplet repeat expansion; Zinc-finger.
FT DOMAIN 1 558 Modulating.
FT DNA_BIND 559 631 Nuclear receptor-type.
FT ZN_FING 559 579 C4-type.
FT DOMAIN 571 661 Interaction with HIPK3 (By similarity).
FT ZN_FING 595 619 C4-type.
FT DOMAIN 690 919 Ligand-binding.
FT DOMAIN 58 89 Gln-rich.
FT DOMAIN 54 57 Poly-Leu.
FT DOMAIN 58 78 Poly-Gln.
FT DOMAIN 84 89 Poly-Gln.
FT DOMAIN 193 197 Poly-Gln.
FT DOMAIN 372 381 Poly-Pro.
FT DOMAIN 396 402 Poly-Ala.
FT DOMAIN 449 472 Poly-Gly.
FT VARIANT 2 2 E -> K (in PAIS).
FT /FTId=VAR_004679.
FT VARIANT 54 54 L -> S (in prostate cancer).
FT /FTId=VAR_004680.
FT VARIANT 57 57 L -> Q (in prostate cancer).
FT /FTId=VAR_004681.
FT VARIANT 64 64 Q -> R (in prostate cancer).
FT /FTId=VAR_009711.
FT VARIANT 74 78 Missing.
FT /FTId=VAR_004682.
FT VARIANT 112 112 Q -> H (in prostate cancer).
FT /FTId=VAR_009712.
FT VARIANT 180 180 K -> R (in prostate cancer).
FT /FTId=VAR_009713.
FT VARIANT 194 194 Q -> R (in CAIS).
FT /FTId=VAR_009224.
FT VARIANT 205 205 S -> R.
FT /FTId=VAR_009714.
FT VARIANT 214 214 G -> R (in MAIS; 20% lower
FT transactivation capacity).
FT /FTId=VAR_009715.
FT VARIANT 255 255 L -> P (in CAIS).
FT /FTId=VAR_009225.
FT VARIANT 266 266 M -> T (in prostate cancer).
FT /FTId=VAR_009716.
FT VARIANT 269 269 P -> S (in prostate cancer).
FT /FTId=VAR_009717.
FT VARIANT 340 340 P -> L (in prostate cancer).
FT /FTId=VAR_009718.
FT VARIANT 390 390 P -> R (in CAIS).
FT /FTId=VAR_009226.
FT VARIANT 390 390 P -> S (in MAIS).
FT /FTId=VAR_009227.
FT VARIANT 443 443 Q -> R (in CAIS; might be a
FT polymorphism).
FT /FTId=VAR_009228.
FT VARIANT 465 472 Missing.
FT /FTId=VAR_004683.
FT VARIANT 491 491 G -> S (in CAIS).
FT /FTId=VAR_009719.
FT VARIANT 528 528 D -> G (in prostate cancer).
FT /FTId=VAR_009720.
FT VARIANT 547 547 L -> F (in PAIS).
FT /FTId=VAR_009721.
FT VARIANT 548 548 P -> S (in MAIS).
FT /FTId=VAR_009722.
FT VARIANT 559 559 C -> Y (in CAIS).
FT /FTId=VAR_009723.
FT VARIANT 568 568 G -> V (in PAIS).
FT /FTId=VAR_009725.
FT VARIANT 568 568 G -> W (in PAIS).
FT /FTId=VAR_009726.
FT VARIANT 571 571 Y -> C (in CAIS).
FT /FTId=VAR_009727.
FT VARIANT 573 573 A -> D (in CAIS; defective DNA binding
FT and transactivation).
FT /FTId=VAR_009728.
FT VARIANT 574 574 L -> P (in prostate cancer).
FT /FTId=VAR_009729.
FT VARIANT 575 575 T -> A (in prostate cancer).
FT /FTId=VAR_009730.
FT VARIANT 576 576 C -> F (in CAIS; lack of DNA binding).
FT /FTId=VAR_009731.
FT VARIANT 576 576 C -> R (in CAIS).
FT /FTId=VAR_009732.
FT VARIANT 579 579 C -> F (in CAIS; reduced transcription
FT and DNA binding).
FT /FTId=VAR_009733.
FT VARIANT 579 579 C -> Y (in CAIS).
FT /FTId=VAR_009734.
FT VARIANT 580 580 K -> R (in prostate cancer).
FT /FTId=VAR_009735.
FT VARIANT 581 581 V -> F (in CAIS).
FT /FTId=VAR_009736.
FT VARIANT 582 582 F -> S (in PAIS).
FT /FTId=VAR_009737.
FT VARIANT 582 582 F -> Y (in PAIS).
FT /FTId=VAR_009738.
FT VARIANT 582 582 Missing (in CAIS).
FT /FTId=VAR_009739.
FT VARIANT 585 585 R -> K (in CAIS).
FT /FTId=VAR_009740.
FT VARIANT 586 586 A -> V (in prostate cancer; somatic
FT mutation).
FT /FTId=VAR_009741.
FT VARIANT 587 587 A -> S (in prostate cancer; somatic
FT mutation).
FT /FTId=VAR_009742.
FT VARIANT 596 596 A -> T (in PAIS; abolishes dimerization).
FT /FTId=VAR_009743.
FT VARIANT 597 597 S -> G (in PAIS; high dissociation rate;
FT associated with P-617 in a PAIS patient;
FT partially restores DNA-binding activity
FT of P-617 mutant receptors).
FT /FTId=VAR_009744.
FT VARIANT 597 597 S -> T (in PAIS).
FT /FTId=VAR_009745.
FT VARIANT 601 601 C -> F (in CAIS).
FT /FTId=VAR_009746.
FT VARIANT 604 604 D -> Y (in PAIS).
FT /FTId=VAR_009747.
FT VARIANT 607 607 R -> Q (in PAIS and breast cancer).
FT /FTId=VAR_004684.
FT VARIANT 608 608 R -> K (in PAIS and breast cancer;
FT defective nuclear localization).
FT /FTId=VAR_004685.
FT VARIANT 610 610 N -> T (in PAIS).
FT /FTId=VAR_009748.
FT VARIANT 611 611 C -> Y (in CAIS).
FT /FTId=VAR_009749.
FT VARIANT 615 615 Missing (in CAIS).
FT /FTId=VAR_009750.
FT VARIANT 615 615 R -> H (in CAIS and PAIS).
FT /FTId=VAR_009751.
FT VARIANT 615 615 R -> P (in CAIS).
FT /FTId=VAR_009752.
FT VARIANT 616 616 L -> P (in CAIS).
FT /FTId=VAR_009753.
FT VARIANT 616 616 L -> R (in PAIS).
FT /FTId=VAR_009754.
FT VARIANT 617 617 R -> P (in CAIS and PAIS; loss of DNA-
FT binding activity; associated with G-597
FT in a PAIS patient).
FT /FTId=VAR_009755.
FT VARIANT 619 619 C -> Y (in prostate cancer; loss of DNA
FT binding; somatic mutation).
FT /FTId=VAR_009756.
FT VARIANT 629 629 R -> Q (in prostate cancer).
FT /FTId=VAR_009757.
FT VARIANT 630 630 K -> T (in prostate cancer).
FT /FTId=VAR_009758.
FT VARIANT 645 645 A -> D (in dbSNP:1800053).
FT /FTId=VAR_004686.
FT VARIANT 647 647 S -> N (in prostate cancer).
FT /FTId=VAR_009760.
FT VARIANT 664 664 I -> N (in CAIS and PAIS).
FT /FTId=VAR_004687.
FT VARIANT 670 670 Q -> R (in prostate cancer).
FT /FTId=VAR_009761.
FT VARIANT 671 671 P -> H (in PAIS).
FT /FTId=VAR_009762.
FT VARIANT 672 672 I -> T (in prostate cancer).
FT /FTId=VAR_009763.
FT VARIANT 677 677 L -> P (in CAIS).
FT /FTId=VAR_004688.
FT VARIANT 681 681 E -> K (in CAIS).
FT /FTId=VAR_009764.
FT VARIANT 682 682 P -> T (in PAIS).
FT /FTId=VAR_013474.
FT VARIANT 683 683 G -> A (in prostate cancer).
FT /FTId=VAR_009765.
FT VARIANT 684 684 V -> I (in CAIS).
FT /FTId=VAR_009766.
FT VARIANT 686 686 C -> R (in PAIS).
FT /FTId=VAR_009767.
FT VARIANT 687 687 A -> V (in PAIS).
FT /FTId=VAR_009768.
FT VARIANT 688 688 G -> E (in CAIS).
FT /FTId=VAR_009769.
FT VARIANT 690 690 Missing (in PAIS).
FT /FTId=VAR_009770.
FT VARIANT 692 692 Missing (in CAIS).
FT /FTId=VAR_004689.
FT VARIANT 695 695 D -> H (in CAIS).
FT /FTId=VAR_004690.
FT VARIANT 695 695 D -> N (in CAIS).
FT /FTId=VAR_004691.
FT VARIANT 695 695 D -> V (in CAIS).
FT /FTId=VAR_004692.
FT VARIANT 700 700 L -> M (in CAIS).
FT /FTId=VAR_009771.
FT VARIANT 701 701 L -> F (in CAIS).
FT /FTId=VAR_009772.
FT VARIANT 701 701 L -> H (in CAIS and prostate cancer).
FT /FTId=VAR_009773.
FT VARIANT 702 702 S -> A (in CAIS).
FT /FTId=VAR_009774.
FT VARIANT 703 703 S -> C (in CAIS).
FT /FTId=VAR_009775.
FT VARIANT 703 703 S -> G (in PAIS and CAIS).
FT /FTId=VAR_004693.
FT VARIANT 705 705 N -> S (in CAIS).
FT /FTId=VAR_009776.
FT VARIANT 705 705 N -> Y (in CAIS).
FT /FTId=VAR_013475.
FT VARIANT 707 707 L -> R (in CAIS).
FT /FTId=VAR_004694.
FT VARIANT 708 708 G -> A (in PAIS).
FT /FTId=VAR_009777.
FT VARIANT 708 708 G -> V (in CAIS).
FT /FTId=VAR_009778.
FT VARIANT 710 710 R -> T (in CAIS).
FT /FTId=VAR_009779.
FT VARIANT 711 711 Q -> E (in PAIS).
FT /FTId=VAR_013476.
FT VARIANT 712 712 L -> F (in PAIS).
FT /FTId=VAR_009780.
FT VARIANT 715 715 V -> M (in prostate cancer; gain in
FT function).
FT /FTId=VAR_009781.
FT VARIANT 717 717 K -> E (in prostate cancer).
FT /FTId=VAR_009782.
FT VARIANT 720 720 K -> E (in prostate cancer; found in bone
FT metastases).
FT /FTId=VAR_009783.
FT VARIANT 721 721 A -> T (in prostate cancer; somatic
FT mutation).
FT /FTId=VAR_009784.
FT VARIANT 722 722 L -> F (in CAIS).
FT /FTId=VAR_009785.
FT VARIANT 723 723 P -> S (in CAIS).
FT /FTId=VAR_009786.
FT VARIANT 724 724 G -> D (in CAIS and prostate cancer).
FT /FTId=VAR_009787.
FT VARIANT 725 725 F -> L (in PAIS).
FT /FTId=VAR_009788.
FT VARIANT 726 726 R -> L (in prostate cancer).
FT /FTId=VAR_009789.
FT VARIANT 727 727 N -> K (in MAIS).
FT /FTId=VAR_009790.
FT VARIANT 728 728 L -> S (in PAIS).
FT /FTId=VAR_009791.
FT VARIANT 730 730 V -> M (in prostate cancer).
FT /FTId=VAR_004695.
FT VARIANT 732 732 D -> N (in CAIS).
FT /FTId=VAR_004696.
FT VARIANT 732 732 D -> Y (in CAIS).
FT /FTId=VAR_004697.
FT VARIANT 733 733 Q -> H (in PAIS).
FT /FTId=VAR_009792.
FT VARIANT 737 737 I -> T (in PAIS).
FT /FTId=VAR_009793.
FT VARIANT 741 741 W -> R (in CAIS).
FT /FTId=VAR_009794.
FT VARIANT 742 742 M -> I (in PAIS).
FT /FTId=VAR_004698.
FT VARIANT 742 742 M -> V (in PAIS).
FT /FTId=VAR_009795.
FT VARIANT 743 743 G -> E (in CAIS).
FT /FTId=VAR_013477.
FT VARIANT 743 743 G -> V (in PAIS and CAIS).
FT /FTId=VAR_004699.
FT VARIANT 744 744 L -> F (in CAIS and prostate cancer).
FT /FTId=VAR_009796.
FT VARIANT 745 745 M -> T (in PAIS).
FT /FTId=VAR_009797.
FT VARIANT 746 746 V -> M (in PAIS).
FT /FTId=VAR_009798.
FT VARIANT 748 748 A -> D (in PAIS).
FT /FTId=VAR_009799.
FT VARIANT 748 748 A -> T (in prostate cancer).
FT /FTId=VAR_009800.
FT VARIANT 748 748 A -> V (in prostate cancer).
FT /FTId=VAR_009801.
FT VARIANT 749 749 M -> I (in prostate cancer).
FT /FTId=VAR_009802.
FT VARIANT 749 749 M -> V (in PAIS and CAIS).
FT /FTId=VAR_004700.
FT VARIANT 750 750 G -> D (in CAIS; loss of androgen
FT binding).
FT /FTId=VAR_004701.
FT VARIANT 750 750 G -> S (in prostate cancer).
FT /FTId=VAR_009803.
FT VARIANT 751 751 W -> R (in CAIS).
FT /FTId=VAR_009804.
FT VARIANT 752 752 R -> Q (in CAIS).
FT /FTId=VAR_004702.
FT VARIANT 754 754 F -> L (in PAIS and prostate cancer).
FT /FTId=VAR_009805.
FT VARIANT 754 754 F -> V (in CAIS).
FT /FTId=VAR_004703.
FT VARIANT 755 755 T -> A (in prostate cancer).
FT /FTId=VAR_009806.
FT VARIANT 756 756 N -> S (in PAIS).
FT /FTId=VAR_009807.
FT VARIANT 757 757 V -> A (in prostate cancer).
FT /FTId=VAR_009808.
FT VARIANT 758 758 N -> T (in PAIS; 50% reduction in
FT transactivation).
FT /FTId=VAR_009809.
FT VARIANT 759 759 S -> F (in CAIS).
FT /FTId=VAR_009810.
FT VARIANT 759 759 S -> P (in prostate cancer).
FT /FTId=VAR_009811.
FT VARIANT 762 762 L -> F (in CAIS; loss of androgen
FT binding).
FT /FTId=VAR_004704.
FT VARIANT 763 763 Y -> C (in PAIS and prostate cancer;
FT partial loss of androgen binding).
FT /FTId=VAR_004705.
FT VARIANT 763 763 Y -> H (in CAIS).
FT /FTId=VAR_009812.
FT VARIANT 764 764 F -> L (in CAIS).
FT /FTId=VAR_009813.
FT VARIANT 765 765 A -> T (in CAIS; loss of androgen
FT binding).
FT /FTId=VAR_004707.
FT VARIANT 765 765 A -> V (in CAIS).
FT /FTId=VAR_009814.
FT VARIANT 766 766 P -> S (in CAIS).
FT /FTId=VAR_009815.
FT VARIANT 767 767 D -> E (in CAIS).
FT /FTId=VAR_009816.
FT VARIANT 768 768 L -> P (in CAIS).
FT /FTId=VAR_009817.
FT VARIANT 771 771 N -> H (in PAIS).
FT /FTId=VAR_009818.
FT VARIANT 772 772 E -> A (in PAIS).
FT /FTId=VAR_009819.
FT VARIANT 772 772 E -> G (in PAIS).
FT /FTId=VAR_009820.
FT VARIANT 774 774 R -> C (in CAIS; loss of androgen
FT binding; frequent mutation).
FT /FTId=VAR_004709.
FT VARIANT 774 774 R -> H (in CAIS and PAIS; almost complete
FT loss of androgen binding).
FT /FTId=VAR_004708.
FT VARIANT 779 779 R -> W (in CAIS).
FT /FTId=VAR_004710.
FT VARIANT 780 780 M -> I (in PAIS and CAIS).
FT /FTId=VAR_004711.
FT VARIANT 782 782 S -> N (in prostate cancer; somatic
FT mutation).
FT /FTId=VAR_009821.
FT VARIANT 784 784 C -> Y (in CAIS; loss of androgen binding
FT and of transactivation).
FT /FTId=VAR_004712.
FT VARIANT 787 787 M -> V (in CAIS).
FT /FTId=VAR_004713.
FT VARIANT 788 788 R -> S (in MAIS).
FT /FTId=VAR_009822.
FT VARIANT 790 790 L -> F (in MAIS).
FT /FTId=VAR_009823.
FT VARIANT 791 791 S -> P (in prostate cancer).
FT /FTId=VAR_009824.
FT VARIANT 793 793 E -> D.
FT /FTId=VAR_009825.
FT VARIANT 794 794 F -> S (in CAIS).
FT /FTId=VAR_004714.
FT VARIANT 798 798 Q -> E (in PAIS, MAIS and prostate
FT cancer).
FT /FTId=VAR_004715.
FT VARIANT 806 806 C -> Y (in PAIS).
FT /FTId=VAR_009826.
FT VARIANT 807 807 M -> R (in CAIS; loss of
FT transactivation).
FT /FTId=VAR_004716.
FT VARIANT 807 807 M -> T (in PAIS).
FT /FTId=VAR_009827.
FT VARIANT 807 807 M -> V (in CAIS; 25% androgen binding).
FT /FTId=VAR_004717.
FT VARIANT 812 812 L -> F (in PAIS).
FT /FTId=VAR_009828.
FT VARIANT 814 814 S -> N (in MAIS, CAIS and PAIS).
FT /FTId=VAR_004718.
FT VARIANT 820 820 G -> A (in CAIS).
FT /FTId=VAR_009829.
FT VARIANT 821 821 L -> V (in PAIS).
FT /FTId=VAR_009830.
FT VARIANT 827 827 F -> V (in PAIS).
FT /FTId=VAR_013478.
FT VARIANT 830 830 L -> P (in prostate cancer).
FT /FTId=VAR_009831.
FT VARIANT 831 831 R -> L (in CAIS).
FT /FTId=VAR_004719.
FT VARIANT 831 831 R -> Q (in CAIS; loss of androgen
FT binding).
FT /FTId=VAR_004720.
FT VARIANT 834 834 Y -> C (in CAIS; loss of androgen
FT binding).
FT /FTId=VAR_009832.
FT VARIANT 840 840 R -> C (in PAIS).
FT /FTId=VAR_004721.
FT VARIANT 840 840 R -> G (in PAIS).
FT /FTId=VAR_004722.
FT VARIANT 840 840 R -> H (in PAIS).
FT /FTId=VAR_004723.
FT VARIANT 840 840 R -> S (in PAIS).
FT /FTId=VAR_009229.
FT VARIANT 841 841 I -> S (in PAIS).
FT /FTId=VAR_009833.
FT VARIANT 842 842 I -> T (in CAIS).
FT /FTId=VAR_004724.
FT VARIANT 846 846 R -> G (in prostate cancer).
FT /FTId=VAR_009834.
FT VARIANT 854 854 R -> K (in PAIS).
FT /FTId=VAR_009835.
FT VARIANT 855 855 R -> C (in CAIS).
FT /FTId=VAR_004725.
FT VARIANT 855 855 R -> H (in PAIS and CAIS).
FT /FTId=VAR_004726.
FT VARIANT 856 856 F -> L (in CAIS).
FT /FTId=VAR_009836.
FT VARIANT 863 863 L -> R (in CAIS).
FT /FTId=VAR_009837.
FT VARIANT 864 864 D -> G (in CAIS).
FT /FTId=VAR_009838.
FT VARIANT 864 864 D -> N (in CAIS; loss of androgen
FT binding).
FT /FTId=VAR_004727.
FT VARIANT 865 865 S -> P (in CAIS).
FT /FTId=VAR_009839.
FT VARIANT 866 866 V -> E (in CAIS).
FT /FTId=VAR_004728.
FT VARIANT 866 866 V -> L (in PAIS).
FT /FTId=VAR_004729.
FT VARIANT 866 866 V -> M (in CAIS, PAIS and prostate
FT cancer).
FT /FTId=VAR_004730.
FT VARIANT 869 869 I -> M (in PAIS).
FT /FTId=VAR_004731.
FT VARIANT 870 870 A -> G (in PAIS).
FT /FTId=VAR_009840.
FT VARIANT 870 870 A -> V (in PAIS).
FT /FTId=VAR_009841.
FT VARIANT 871 871 R -> G (in MAIS).
FT /FTId=VAR_009842.
FT VARIANT 874 874 H -> R (in CAIS).
FT /FTId=VAR_013479.
FT VARIANT 874 874 H -> Y (in prostate cancer).
FT /FTId=VAR_009843.
FT VARIANT 877 877 T -> A (in prostate cancer; affects
FT steroid binding characteristics and
FT response to antiandrogens; found in bone
FT metastases).
FT /FTId=VAR_004732.
FT VARIANT 877 877 T -> S (in prostate cancer).
FT /FTId=VAR_009844.
FT VARIANT 879 879 D -> Y (in MAIS).
FT /FTId=VAR_013480.
FT VARIANT 880 880 L -> Q (in prostate cancer).
FT /FTId=VAR_009845.
FT VARIANT 881 881 L -> V (in CAIS).
FT /FTId=VAR_009846.
FT VARIANT 886 886 M -> V (in MAIS).
FT /FTId=VAR_009847.
FT VARIANT 889 889 V -> M (in CAIS and PAIS).
FT /FTId=VAR_009848.
FT VARIANT 890 890 D -> N (in prostate cancer).
FT /FTId=VAR_009849.
FT VARIANT 891 891 F -> L (in prostate cancer).
FT /FTId=VAR_009850.
FT VARIANT 892 892 P -> L (in CAIS).
FT /FTId=VAR_004733.
FT VARIANT 895 895 M -> T (in CAIS; low androgen binding and
FT transactivation).
FT /FTId=VAR_004734.
FT VARIANT 896 896 A -> T (in prostate cancer).
FT /FTId=VAR_009851.
FT VARIANT 898 898 I -> T (in CAIS).
FT /FTId=VAR_009852.
FT VARIANT 902 902 Q -> R (in prostate cancer).
FT /FTId=VAR_009853.
FT VARIANT 903 903 V -> M (in PAIS).
FT /FTId=VAR_009854.
FT VARIANT 904 904 P -> H (in CAIS).
FT /FTId=VAR_009855.
FT VARIANT 904 904 P -> S (in CAIS).
FT /FTId=VAR_009856.
FT VARIANT 907 907 L -> F (in CAIS).
FT /FTId=VAR_004735.
FT VARIANT 909 909 G -> E (in prostate cancer).
FT /FTId=VAR_009857.
FT VARIANT 909 909 G -> R (in PAIS).
FT /FTId=VAR_009858.
FT VARIANT 910 910 K -> R (in prostate cancer).
FT /FTId=VAR_009859.
FT VARIANT 911 911 V -> L (in PAIS).
FT /FTId=VAR_009860.
FT VARIANT 913 913 P -> S (in PAIS).
FT /FTId=VAR_004736.
FT VARIANT 916 916 F -> L (in CAIS).
FT /FTId=VAR_009861.
FT VARIANT 917 917 H -> R (in CAIS).
FT /FTId=VAR_009862.
FT VARIANT 919 919 Q -> R (in prostate cancer).
FT /FTId=VAR_009863.
FT CONFLICT 166 166 G -> A (in Ref. 3).
FT CONFLICT 212 212 A -> R (in Ref. 5 and 6).
FT CONFLICT 390 390 P -> L (in Ref. 7).
FT CONFLICT 475 475 G -> E (in Ref. 4 and 8).
FT CONFLICT 565 565 E -> K (in Ref. 9).
FT CONFLICT 634 634 L -> P (in Ref. 27; AAB21256/AAB21257).
FT CONFLICT 675 675 N -> I (in Ref. 27; AAB21256/AAB21257).
FT CONFLICT 810 810 L -> M (in Ref. 3).
FT HELIX 672 680
FT TURN 691 692
FT HELIX 697 720
FT TURN 721 721
FT TURN 723 724
FT HELIX 725 727
FT HELIX 730 757
FT TURN 758 759
FT STRAND 762 765
FT TURN 766 767
FT STRAND 768 770
FT HELIX 772 777
FT TURN 778 779
FT HELIX 781 796
FT TURN 797 798
FT HELIX 801 812
FT TURN 813 813
FT STRAND 815 817
FT TURN 818 819
FT TURN 822 823
FT HELIX 824 843
FT TURN 844 844
FT HELIX 852 887
FT TURN 888 888
FT HELIX 893 901
FT TURN 902 902
FT HELIX 903 907
FT TURN 908 909
FT STRAND 911 913
SQ SEQUENCE 919 AA; 98989 MW; 93B096927740B6FF CRC64;
MEVQLGLGRV YPRPPSKTYR GAFQNLFQSV REVIQNPGPR HPEAASAAPP GASLLLLQQQ
QQQQQQQQQQ QQQQQQQQET SPRQQQQQQG EDGSPQAHRR GPTGYLVLDE EQQPSQPQSA
LECHPERGCV PEPGAAVAAS KGLPQQLPAP PDEDDSAAPS TLSLLGPTFP GLSSCSADLK
DILSEASTMQ LLQQQQQEAV SEGSSSGRAR EASGAPTSSK DNYLGGTSTI SDNAKELCKA
VSVSMGLGVE ALEHLSPGEQ LRGDCMYAPL LGVPPAVRPT PCAPLAECKG SLLDDSAGKS
TEDTAEYSPF KGGYTKGLEG ESLGCSGSAA AGSSGTLELP STLSLYKSGA LDEAAAYQSR
DYYNFPLALA GPPPPPPPPH PHARIKLENP LDYGSAWAAA AAQCRYGDLA SLHGAGAAGP
GSGSPSAAAS SSWHTLFTAE EGQLYGPCGG GGGGGGGGGG GGGGGGGGGG GGEAGAVAPY
GYTRPPQGLA GQESDFTAPD VWYPGGMVSR VPYPSPTCVK SEMGPWMDSY SGPYGDMRLE
TARDHVLPID YYFPPQKTCL ICGDEASGCH YGALTCGSCK VFFKRAAEGK QKYLCASRND
CTIDKFRRKN CPSCRLRKCY EAGMTLGARK LKKLGNLKLQ EEGEASSTTS PTEETTQKLT
VSHIEGYECQ PIFLNVLEAI EPGVVCAGHD NNQPDSFAAL LSSLNELGER QLVHVVKWAK
ALPGFRNLHV DDQMAVIQYS WMGLMVFAMG WRSFTNVNSR MLYFAPDLVF NEYRMHKSRM
YSQCVRMRHL SQEFGWLQIT PQEFLCMKAL LLFSIIPVDG LKNQKFFDEL RMNYIKELDR
IIACKRKNPT SCSRRFYQLT KLLDSVQPIA RELHQFTFDL LIKSHMVSVD FPEMMAEIIS
VQVPKILSGK VKPIYFHTQ
//