Variant position: 775 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 920 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FTNVNSRMLYFAPDLVFNEY RMHKSRMYSQCVRMRHLSQEF
Rhesus macaque FTNVNSRMLYFAPDLVFNEY RMHKSRMYSQCVRMRHLSQEF
Chimpanzee FTNVNSRMLYFAPDLVFNEY RMHKSRMYSQCVRMRHLSQEF
Mouse FTNVNSRMLYFAPDLVFNEY RMHKSRMYSQCVRMRHLSQEF
Rat FTNVNSRMLYFAPDLVFNEY RMHKSRMYSQCVRMRHLSQEF
Pig FTNVNSRMLYFAPDLVFNEY RMHKSRMYSQCVRMRHLSQEF
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Functional characterization of naturally occurring mutant androgen receptors from subjects with complete androgen insensitivity.
Brown T.R.; Lubahn D.B.; Wilson E.M.; French F.S.; Migeon C.J.; Corfen J.L.;
Mol. Endocrinol. 4:1759-1772(1990)
Cited for: VARIANTS AIS CYS-775; GLN-832 AND MET-867;
Androgen resistance associated with a mutation of the androgen receptor at amino acid 772 (Arg-->Cys) results from a combination of decreased messenger ribonucleic acid levels and impairment of receptor function.
Marcelli M.; Tilley W.D.; Zoppi S.; Griffin J.E.; Wilson J.D.; McPhaul M.J.;
J. Clin. Endocrinol. Metab. 73:318-325(1991)
Cited for: VARIANT CYS-775;
Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
Prior L.; Bordet S.; Trifiro M.A.; Mhatre A.; Kaufman M.; Pinsky L.; Wrogemann K.; Belsham D.D.; Pereira F.; Greenberg C.R.; Trapman J.; Brinkmann A.O.; Chang C.; Liao S.;
Am. J. Hum. Genet. 51:143-155(1992)
Cited for: VARIANTS AIS CYS-775 AND HIS-775;
Mutations of the androgen receptor gene in patients with complete androgen insensitivity.
Jakubiczka S.; Nedel S.; Werder E.A.; Schleiermacher E.; Theile U.; Wolff G.; Wieacker P.;
Hum. Mutat. 9:57-61(1997)
Cited for: VARIANTS AIS VAL-750; CYS-775; ILE-781 AND SER-795;
Molecular analysis of the androgen receptor gene in 4 patients with complete androgen insensitivity.
Komori S.; Kasumi H.; Sakata K.; Tanaka H.; Hamada K.; Koyama K.;
Arch. Gynecol. Obstet. 261:95-100(1998)
Cited for: VARIANTS AIS CYS-572; GLN-753 AND CYS-775;
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