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.
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;
Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique.
De Bellis A.; Quigley C.A.; Cariello N.F.; el-Awady M.K.; Sar M.; Lane M.V.; Wilson E.M.; French F.S.;
Mol. Endocrinol. 6:1909-1920(1992)
Cited for: VARIANTS AIS SER-706; VAL-750; PHE-760; HIS-775; CYS-856 AND GLY-865;
Androgen receptor defects: historical, clinical, and molecular perspectives.
Quigley C.A.; De Bellis A.; Marschke K.B.; el-Awady M.K.; Wilson E.M.; French F.S.;
Endocr. Rev. 16:271-321(1995)
Cited for: VARIANTS AIS SER-706 AND HIS-764; VARIANTS PAIS LEU-726; THR-738; HIS-775 AND GLU-799;
Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.
Jaeaeskelaeinen J.; Deeb A.; Schwabe J.W.; Mongan N.P.; Martin H.; Hughes I.A.;
J. Mol. Endocrinol. 36:361-368(2006)
Cited for: CHARACTERIZATION OF VARIANTS AIS ASN-696; CYS-764; HIS-775; GLU-799; HIS-856 AND PHE-908;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.