Variant position: 870 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 ASMKEEFTRLKEALEKSEAR RKELEEKMVSLLQEKNDLQLQ
Mouse ATMKEEFGRVKDALEKSEAR RKELEEKMVSLLQEKNDLQLQ
Rat ANMKEEFGRVKDALEKSEAR RKELEEKMVSLLQEKNDLQLQ
Pig ATMKEEFGRLKEALEKSEAR RKELEEKMVSLLQEKNDLQLQ
Bovine ALMKEEFGRLKEALEKSEAR RKELEEKMVSLLQEKNDLQLQ
Horse ATMKEEFARLKEALEKSEAR RKELEEKMVSLLQEKNDLQLQ
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;
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J.; Daehmlow S.; Wischke S.; Senyuva M.; Werner U.; Raible J.; Tanis N.; Dyachenko S.; Hummel M.; Hetzer R.; Regitz-Zagrosek V.;
Clin. Genet. 64:339-349(2003)
Cited for: VARIANTS CMH1 TRP-143; TRP-403; ILE-411; SER-584; HIS-694; TRP-719; THR-736; PHE-796; ILE-824; HIS-870; PHE-905; GLN-924 AND ASN-928;
Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.
Tanjore R.R.; Sikindlapuram A.D.; Calambur N.; Thakkar B.; Kerkar P.G.; Nallari P.;
Clin. Genet. 69:434-436(2006)
Cited for: VARIANT CMH1 HIS-870;
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