Sequence information
Variant position: 908 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:
VSVDFPEMMAEIISVQVPKI
L SGKVKPIYFHTQ
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 VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
Rhesus macaque VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
Chimpanzee VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
Mouse VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
Rat VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
Pig VSVDFPEMMAEIISVQVPKIL SGKVKPIYFHTQ
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.
Type Positions Description
Chain
1 – 920
Androgen receptor
Region
552 – 919
Interaction with LPXN
Region
592 – 919
Interaction with CCAR1
Region
625 – 919
Interaction with KAT7
Site
898 – 898
Interaction with coactivator FXXLF and FXXFY motifs
Modified residue
916 – 916
Phosphotyrosine; by CSK
Alternative sequence
645 – 920
Missing. In isoform 3.
Alternative sequence
649 – 920
Missing. In isoform 4.
Mutagenesis
898 – 898
E -> AQ. Reduced transcription activation in the presence of androgen.
Mutagenesis
898 – 898
E -> KR. Loss of transcription activation in the presence of androgen.
Mutagenesis
916 – 916
Y -> F. Decrease in CSK-induced phosphorylation.
Helix
904 – 908
Literature citations
Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome.
Bevan C.L.; Hughes I.A.; Patterson M.N.;
J. Steroid Biochem. Mol. Biol. 61:19-26(1997)
Cited for: VARIANTS AIS ASP-751; PHE-763; THR-766; ASN-865 AND PHE-908;
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;
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.