Variant position: 383 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 KFKLKQREEQAEPDGTEEAD KSAYLMGLNSADLLKGLCHPR
Mouse KFKQKQREEQAEPDGTEEAD KSAYLMGLNSADLLKGLCHPR
Rat KFKQKQREEQAEPDGTEEAD KSAYLMGLNSADLLKGLCHPR
Pig KFKLKQREEQAEPDGTEEAD KSAYLMGLNSADLLKGLCHPR
Bovine KFKLKQREEQAEPDGTEEAD KSAYLMGLNSADLLKGLCHPR
Horse KFKQKQREEQAEPDGTEEAD KSAYLMGLNSADLLKGLCHPR
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.
Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.
Kuang S.-Q.; Yu J.-D.; Lu L.; He L.-M.; Gong L.-S.; Chen S.-J.; Chen Z.;
J. Mol. Cell. Cardiol. 28:1879-1883(1996)
Cited for: VARIANT CMH1 ASN-383;
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