Variant position: 782 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 KVFFKAGLLGLLEEMRDERL SRIITRIQAQSRGVLARMEYK
Mouse KVFFKAGLLGLLEEMRDERL SRIITRIQAQSRGVLSRMEFK
Rat KVFFKAGLLGLLEEMRDERL SRIITRIQAQSRGVLSRMEFK
Pig KVFFKAGLLGLLEEMRDERL SRIITRIQAQSRGVLSRMEFK
Bovine KVFFKAGLLGLLEEMRDERL SRIITRIQAQSRGVLSRMEFK
Horse KVFFKAGLLGLLEEMRDERL SRIITRIQAQSRGVLARMEFK
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.
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
Rayment I.; Holden H.M.; Sellers J.R.; Fananapazir L.; Epstein N.D.;
Proc. Natl. Acad. Sci. U.S.A. 92:3864-3868(1995)
Cited for: VARIANTS CMH1 ILE-124; CYS-162; LYS-187; LYS-222; LEU-244; HIS-663; ASN-782 AND HIS-870;
Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Mohiddin S.A.; Begley D.A.; McLam E.; Cardoso J.-P.; Winkler J.B.; Sellers J.R.; Fananapazir L.;
Genet. Test. 7:21-27(2003)
Cited for: VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908;
Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain.
Moric E.; Mazurek U.; Polonska J.; Domal-Kwiatkowska D.; Smolik S.; Kozakiewicz K.; Tendera M.; Wilczok T.;
J. Appl. Genet. 44:103-109(2003)
Cited for: VARIANTS CMH1 VAL-774 AND ASN-782;
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.