Variant position: 797 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 RDERLSRIITRIQAQSRGVL ARMEYKKLLERRDSLLVIQWN
Mouse RDERLSRIITRIQAQSRGVL SRMEFKKLLERRDSLLIIQWN
Rat RDERLSRIITRIQAQSRGVL SRMEFKKLLERRDSLLIIQWN
Pig RDERLSRIITRIQAQSRGVL SRMEFKKLLERRDSLLIIQWN
Bovine RDERLSRIITRIQAQSRGVL SRMEFKKLLERRDSLLIIQWN
Dog RDERLSRIITRIQAQSRGVL SRMEYKKLLERRDSLLIIQWN
Horse RDERLSRIITRIQAQSRGVL ARMEFKKLLERRDSLLIIQWN
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 Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.
Moolman J.C.; Brink P.A.; Corfield V.A.;
Hum. Mutat. 6:197-198(1995)
Cited for: VARIANT CMH1 THR-797;
The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Moolman-Smook J.C.; De Lange W.J.; Bruwer E.C.D.; Brink P.A.; Corfield V.A.;
Am. J. Hum. Genet. 65:1308-1320(1999)
Cited for: VARIANTS CMH1 TRP-403; LYS-499; GLN-719 AND THR-797;
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest S.L.; Jaeger M.A.; Ommen S.R.; Will M.L.; Gersh B.J.; Tajik A.J.; Ackerman M.J.;
J. Am. Coll. Cardiol. 44:602-610(2004)
Cited for: VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929; VARIANTS CYS-1491 AND ASN-1919;
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