Variant position: 22 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 166 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 APKKAKKRAGGANSNVFSMF EQTQIQEFKEAFTIMDQNRDG
Mouse APKKAKKRIEGGSSNVFSMF EQTQIQEFKEAFTIMDQNRDG
Rat SPKKAKKRLEGGSSNVFSMF EQTQIQEFKEAFTIMDQNRDG
Bovine SPKKAKKRAEGANYNVFSMF EQTQIQEFKEAFTIMDQNRDG
Rabbit SPKKAKKRAEGANSNVFSMF EQTQIQEFKEAFTIMDQNRDG
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.
Type Positions Description
2 – 166 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
2 – 2 N,N,N-trimethylalanine
Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
Poetter K.; Jiang H.; Hassanzadeh S.; Master S.R.; Chang A.; Dalakas M.C.; Rayment I.; Sellers J.R.; Fananapazir L.; Epstein N.D.;
Nat. Genet. 13:63-69(1996)
Cited for: VARIANTS CMH10 THR-13; LYS-22 AND ALA-95;
Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
Kabaeva Z.T.; Perrot A.; Wolter B.; Dietz R.; Cardim N.; Correia J.M.; Schulte H.D.; Aldashev A.A.; Mirrakhimov M.M.; Osterziel K.J.;
Eur. J. Hum. Genet. 10:741-748(2002)
Cited for: VARIANTS CMH10 LYS-22 AND GLN-58;
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.