Variant position: 256 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 VRNDNSSRFGKFIRIHFGAT GKLASADIETYLLEKSRVIFQ
Mouse VRNDNSSRFGKFIRIHFGAT GKLASADIETYLLEKSRVIFQ
Rat VRNDNSSRFGKFIRIHFGAT GKLASADIETYLLEKSRVIFQ
Pig VRNDNSSRFGKFIRIHFGAT GKLASADIETYLLEKSRVIFQ
Bovine VRNDNSSRFGKFIRIHFGAT GKLASADIETYLLEKSRVIFQ
Horse VRNDNSSRFGKFIRIHFGAT GKLASADIETYLLEKSRVIFQ
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.
Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.
Fananapazir L.; Dalakas M.C.; Cyran F.; Cohn G.; Epstein N.D.;
Proc. Natl. Acad. Sci. U.S.A. 90:3993-3997(1993)
Cited for: VARIANTS CMH1 GLU-256 AND ARG-741;
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