Variant position: 403 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 KSAYLMGLNSADLLKGLCHP RVKVGNEYVTKGQNVQQVIYA
Mouse KSAYLMGLNSADLLKGLCHP RVKVGNEYVTKGQNVQQVSYA
Rat KSAYLMGLNSADLLKGLCHP RVKVGNEYVTKGQNVQQVAYA
Pig KSAYLMGLNSADLLKGLCHP RVKVGNEYVTKGQNVQQVMYA
Bovine KSAYLMGLNSADLLKGLCHP RVKVGNEYVTKGQNVQQVVYA
Horse KSAYLMGLNSADLLKGLCHP RVKVGNEYVTKGQNVQQVAYA
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.
Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.
Dausse E.; Komajda M.; Fetler L.; Dubourg O.; Dufour C.; Carrier L.; Wisnewsky C.; Bercovici J.; Hengstenberg C.; Al-Mahdawi S.;
J. Clin. Invest. 92:2807-2813(1993)
Cited for: VARIANTS CMH1 LEU-403 AND TRP-403;
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P.; Charron P.; Carrier L.; Ledeuil C.; Cheav T.; Pichereau C.; Benaiche A.; Isnard R.; Dubourg O.; Burban M.; Gueffet J.-P.; Millaire A.; Desnos M.; Schwartz K.; Hainque B.; Komajda M.;
Cited for: VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382 AND THR-1777; VARIANT MET-1692;
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.