Variant position: 597 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 CGSCKVFFKRAAEGKQKYLC ASRNDCTIDKFRRKNCPSCRL
Rhesus macaque CGSCKVFFKRAAEGKQKYLC ASRNDCTIDKFRRKNCPSCRL
Chimpanzee CGSCKVFFKRAAEGKQKYLC ASRNDCTIDKFRRKNCPSCRL
Mouse CGSCKVFFKRAAEGKQKYLC ASRNDCTIDKFRRKNCPSCRL
Rat CGSCKVFFKRAAEGKQKYLC ASRNDCTIDKFRRKNCPSCRL
Pig CGSCKVFFKRAAEGKQKYLC ASRNDCTIDKFRRKNCPSCRL
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.
A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.
Gast A.; Neuschmid-Kaspar F.; Klocker H.; Cato A.C.B.;
Mol. Cell. Endocrinol. 111:93-98(1995)
Cited for: VARIANT PAIS THR-597;
Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome.
Holterhus P.M.; Wiebel J.; Sinnecker G.H.; Bruggenwirth H.T.; Sippell W.G.; Brinkmann A.O.; Kruse K.; Hiort O.;
Pediatr. Res. 46:684-690(1999)
Cited for: VARIANT AIS THR-597;
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