Variant position: 517 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1935 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 EQEEYKKEGIEWTFIDFGMD LQACIDLIEKPMGIMSILEEE
Mouse EQEEYKKEGIEWTFIDFGMD LQACIDLIEKPMGIMSILEEE
Rat EQEEYKKEGIEWTFIDFGMD LQACIDLIEKPMGIMSILEEE
Pig EQEEYKKEGIEWEFIDFGMD LQACIDLIEKPMGIMSILEEE
Bovine EQEEYKKEGIEWEFIDFGMD LQACIDLIEKPMGIMSILEEE
Horse EQEEYKKEGIEWEFIDFGMD LQACIDLIEKPMGIMSILEEE
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.
Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Nanni L.; Pieroni M.; Chimenti C.; Simionati B.; Zimbello R.; Maseri A.; Frustaci A.; Lanfranchi G.;
Biochem. Biophys. Res. Commun. 309:391-398(2003)
Cited for: VARIANTS CMH1 CYS-453; MET-517 AND GLU-734;
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