Variant position: 768 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 SLDIDHNQYKFGHTKVFFKA GLLGLLEEMRDERLSRIITRI
Mouse SLDIDHNQYKFGHTKVFFKA GLLGLLEEMRDERLSRIITRI
Rat SLDIDHNQYKFGHTKVFFKA GLLGLLEEMRDERLSRIITRI
Pig SLDIDHNQYKFGHTKVFFKA GLLGLLEEMRDERLSRIITRI
Bovine SLDIDHNQYKFGHTKVFFKA GLLGLLEEMRDERLSRIITRI
Horse SLDIDHNQYRFGHTKVFFKA GLLGLLEEMRDERLSRIITRI
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.
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.
Ho C.Y.; Sweitzer N.K.; McDonough B.; Maron B.J.; Casey S.A.; Seidman J.G.; Seidman C.E.; Solomon S.D.;
Cited for: VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906;
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; MET-1692 AND THR-1777;
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.