Variant position: 723 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 RICRKGFPNRILYGDFRQRY RILNPAAIPEGQFIDSRKGAE
Mouse RICRKGFPNRILYGDFRQRY RILNPAAIPEGQFIDSRKGAE
Rat RICRKGFPNRILYGDFRQRY RILNPAAIPEGQFIDSRKGAE
Pig RICRKGFPNRILYGDFRQRY RILNPAAIPEGQFIDSRKGAE
Bovine RICRKGFPNRILYGDFRQRY RILNPAAIPEGQFIDSRKGAE
Horse RICRKGFPNRILYGDFRQRY RILNPAAIPEGQFIDSRKGAE
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.
Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Tesson F.; Richard P.; Charron P.; Mathieu B.; Cruaud C.; Carrier L.; Dubourg O.; Lautie N.; Desnos M.; Millaire A.; Isnard R.; Hagege A.A.; Bouhour J.-B.; Bennaceur M.; Hainque B.; Guicheney P.; Schwartz K.; Komajda M.;
Hum. Mutat. 12:385-392(1998)
Cited for: VARIANTS CMH1 THR-263; TRP-719; CYS-723 AND GLU-930 DEL;
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;
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
Ingles J.; Doolan A.; Chiu C.; Seidman J.; Seidman C.; Semsarian C.;
J. Med. Genet. 42:E59-E59(2005)
Cited for: VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057;
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.