Sequence information
Variant position: 706 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:
VCAGHDNNQPDSFAALLSSL
N ELGERQLVHVVKWAKALPGF
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 VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
Rhesus macaque VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
Chimpanzee VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
Mouse VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
Rat VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
Pig VCAGHDNNQPDSFAALLSSLN ELGERQLVHVVKWAKALPGF
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
706 – 706
17beta-hydroxy-5alpha-androstan-3-one
Site
721 – 721
Interaction with coactivator LXXL and FXXFY motifs
Alternative sequence
645 – 920
Missing. In isoform 3.
Alternative sequence
649 – 920
Missing. In isoform 4.
Mutagenesis
702 – 702
L -> A. Alters receptor specificity, so that transcription is activated by the antiandrogen cyproterone acetate.
Mutagenesis
721 – 721
K -> A. Loss of transcription activation in the presence of androgen and of interaction with NCOA2.
Helix
698 – 721
Literature citations
Characterization of a novel receptor mutation A->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis.
Sills E.S.; Sholes T.E.; Perloe M.; Kaplan C.R.; Davis J.G.; Tucker M.J.;
Int. J. Mol. Med. 9:45-48(2002)
Cited for: VARIANT AIS TYR-706;
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.