Sequence information
Variant position: 865 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:
CKRKNPTSCSRRFYQLTKLL
D SVQPIARELHQFTFDLLIKS
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 CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
Rhesus macaque CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
Chimpanzee CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
Mouse CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
Rat CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
Pig CKRKNPTSCSRRFYQLTKLLD SVQPIARELHQFTFDLLIKS
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
Domain
669 – 900
NR LBD
Region
552 – 919
Interaction with LPXN
Region
592 – 919
Interaction with CCAR1
Region
625 – 919
Interaction with KAT7
Binding site
878 – 878
17beta-hydroxy-5alpha-androstan-3-one
Cross
846 – 846
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
848 – 848
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence
645 – 920
Missing. In isoform 3.
Alternative sequence
649 – 920
Missing. In isoform 4.
Mutagenesis
846 – 846
K -> R. Prevents ubiquitination by RNF6. Prevents AR transcriptional activation by RNF14 in absence of hormone.
Mutagenesis
848 – 848
K -> R. Partially prevents ubiquitination by RNF6.
Helix
853 – 883
Literature citations
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;
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.