Variant position: 513 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 MFVLEQEEYKKEGIEWTFID FGMDLQACIDLIEKPMGIMSI
Mouse MFVLEQEEYKKEGIEWTFID FGMDLQACIDLIEKPMGIMSI
Rat MFVLEQEEYKKEGIEWTFID FGMDLQACIDLIEKPMGIMSI
Pig MFVLEQEEYKKEGIEWEFID FGMDLQACIDLIEKPMGIMSI
Bovine MFVLEQEEYKKEGIEWEFID FGMDLQACIDLIEKPMGIMSI
Horse MFVLEQEEYKKEGIEWEFID FGMDLQACIDLIEKPMGIMSI
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.
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.
Anan R.; Greve G.; Thierfelder L.; Watkins H.; McKenna W.; Solomon S.; Vecchio C.; Shono H.; Nakao S.; Tanaka H.; Mares A. Jr.; Towbin J.A.; Spirito P.; Roberts R.; Seidman J.G.; Seidman C.E.;
J. Clin. Invest. 93:280-285(1994)
Cited for: VARIANTS CMH1 CYS-513; ARG-716 AND TRP-719;
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.