Variant position: 383 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 569 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 NISPDASLFDAVYSLIKNKI HRLPVIDPISGNALYILTHKR
Mouse NISPDASLFDAVYSLIKNKI HRLPVIDPISGNALYILTHKR
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.
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.
Scott J.W.; Hawley S.A.; Green K.A.; Anis M.; Stewart G.; Scullion G.A.; Norman D.G.; Hardie D.G.;
J. Clin. Invest. 113:274-284(2004)
Cited for: DOMAIN CBS; AMP-BINDING; ATP-BINDING; CHARACTERIZATION OF VARIANTS WPWS GLN-302; ARG-383 AND ASN-400; CHARACTERIZATION OF VARIANT WPWS GLY-531; FUNCTION;
Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
Blair E.; Redwood C.; Ashrafian H.; Oliveira M.; Broxholme J.; Kerr B.; Salmon A.; Oestman-Smith I.; Watkins H.;
Hum. Mol. Genet. 10:1215-1220(2001)
Cited for: VARIANTS CMH6 LEU-350 INS AND ARG-383;
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