Variant position: 764 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 GLMVFAMGWRSFTNVNSRML YFAPDLVFNEYRMHKSRMYSQ
Rhesus macaque GLMVFAMGWRSFTNVNSRML YFAPDLVFNEYRMHKSRMYSQ
Chimpanzee GLMVFAMGWRSFTNVNSRML YFAPDLVFNEYRMHKSRMYSQ
Mouse GLMVFAMGWRSFTNVNSRML YFAPDLVFNEYRMHKSRMYSQ
Rat GLMVFAMGWRSFTNVNSRML YFAPDLVFNEYRMHKSRMYSQ
Pig GLMVFAMGWRSFTNVNSRML YFAPDLVFNEYRMHKSRMYSQ
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.
Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy.
McPhaul M.J.; Marcelli M.; Tilley W.D.; Griffin J.E.; Isidro-Gutierrez R.F.; Wilson J.D.;
J. Clin. Invest. 87:1413-1421(1991)
Cited for: VARIANT PAIS CYS-764;
Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
Murono K.; Mendonca B.B.; Arnhold I.J.P.; Rigon A.C.M.M.; Migeon C.J.; Brown T.R.;
Hum. Mutat. 6:152-162(1995)
Cited for: VARIANT PAIS CYS-764; VARIANTS AIS TRP-780; VAL-808 AND CYS-856;
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.