Variant position: 302 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 VFDTTLQVKKAFFALVANGV RAAPLWESKKQSFVGMLTITD
Mouse VFDTTLQVKKAFFALVANGV RAAPLWESKKQSFVGMLTITD
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;
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
Gollob M.H.; Green M.S.; Tang A.S.-L.; Gollob T.; Karibe A.; Al Sayegh A.H.; Ahmad F.; Lozado R.; Shah G.; Fananapazir L.; Bachinski L.L.; Roberts R.;
N. Engl. J. Med. 344:1823-1831(2001)
Cited for: VARIANT WPWS GLN-302;
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.
Arad M.; Benson D.W.; Perez-Atayde A.R.; McKenna W.J.; Sparks E.A.; Kanter R.J.; McGarry K.; Seidman J.G.; Seidman C.E.;
J. Clin. Invest. 109:357-362(2002)
Cited for: VARIANTS CMH6 GLN-302; ASN-400 AND ILE-488;
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