Variant position: 788 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 DLVFNEYRMHKSRMYSQCVR MRHLSQEFGWLQITPQEFLCM
Rhesus macaque DLVFNEYRMHKSRMYSQCVR MRHLSQEFGWLQITPQEFLCM
Chimpanzee DLVFNEYRMHKSRMYSQCVR MRHLSQEFGWLQITPQEFLCM
Mouse DLVFNEYRMHKSRMYSQCVR MRHLSQEFGWLQITPQEFLCM
Rat DLVFNEYRMHKSRMYSQCVR MRHLSQEFGWLQITPQEFLCM
Pig DLVFNEYRMHKSRMYSQCVR MRHLSQEFGWLQITPQEFLCM
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.
A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.
Nakao R.; Haji M.; Yanase T.; Ogo A.; Takayanagi R.; Katsube T.; Fukumaki Y.; Nawata H.;
J. Clin. Endocrinol. Metab. 74:1152-1157(1992)
Cited for: VARIANT AIS VAL-788;
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