Sequence information
Variant position: 795 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:
RMHKSRMYSQCVRMRHLSQE
F GWLQITPQEFLCMKALLLFS
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 RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
Rhesus macaque RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
Chimpanzee RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
Mouse RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
Rat RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
Pig RMHKSRMYSQCVRMRHLSQEF GWLQITPQEFLCMKALLLFS
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.
Literature citations
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;
Disclaimer:
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.