Variant position: 143 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 195 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 KNKDTGTYEDFVEGLRVFDK EGNGTVMGAELRHVLATLGER
Mouse KNKDTGTYEDFVEGLRVFDK EGNGTVMGAELRHVLATLGER
Rat KNKDTGTYEDFVEGLRVFDK EGNGTVMGAELRHVLATLGER
Bovine KNKDTGTYEDFVEGLRVFDK EGNGTVMGAELRHVLATLGEK
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 – 195 Myosin light chain 3
128 – 163 EF-hand 2
127 – 127 Phosphothreonine
129 – 129 Phosphothreonine
130 – 130 Phosphotyrosine
Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
Olson T.M.; Karst M.L.; Whitby F.G.; Driscoll D.J.;
Cited for: VARIANT CMH8 LYS-143;
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