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:
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 IARELHQFTFDLLIKSHMVS VDFPEMMAEIISVQVPKILSG
Rhesus macaque IARELHQFTFDLLIKSHMVS VDFPEMMAEIISVQVPKILSG
Chimpanzee IARELHQFTFDLLIKSHMVS VDFPEMMAEIISVQVPKILSG
Mouse IARELHQFTFDLLIKSHMVS VDFPEMMAEIISVQVPKILSG
Rat IARELHQFTFDLLIKSHMVS VDFPEMMAEIISVQVPKILSG
Pig IARELHQFTFDLLIKSHMVS VDFPEMMAEIISVQVPKILSG
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
1 – 920 Androgen receptor
669 – 900 NR LBD
552 – 919 Interaction with LPXN
592 – 919 Interaction with CCAR1
625 – 919 Interaction with KAT7
878 – 878 17beta-hydroxy-5alpha-androstan-3-one
898 – 898 Interaction with coactivator FXXLF and FXXFY motifs
645 – 920 Missing. In isoform 3.
649 – 920 Missing. In isoform 4.
898 – 898 E -> AQ. Reduced transcription activation in the presence of androgen.
898 – 898 E -> KR. Loss of transcription activation in the presence of androgen.
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;
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.