Sequence information
Variant position: 890 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:
IARELHQFTFDLLIKSHMVS
V DFPEMMAEIISVQVPKILSG
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 IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
Rhesus macaque IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
Chimpanzee IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
Mouse IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
Rat IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
Pig IARELHQFTFDLLIKSHMVSV DFPEMMAEIISVQVPKILSG
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
Site
898 – 898
Interaction with coactivator FXXLF and FXXFY motifs
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.
Literature citations
Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.
De Bellis A.; Quigley C.A.; Marschke K.B.; el-Awady M.K.; Lane M.V.; Smith E.P.; Sar M.; Wilson E.M.; French F.S.;
J. Clin. Endocrinol. Metab. 78:513-522(1994)
Cited for: VARIANTS PAIS ARG-617; HIS-841 AND MET-890;
Molecular analysis of androgen resistance syndromes in Egyptian patients.
Essawi M.; Gad Y.Z.; el-Rouby O.; Temtamy S.A.; Sabour Y.A.; el-Awady M.K.;
Dis. Markers 13:99-105(1997)
Cited for: VARIANT AIS MET-890;
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.