Variant position: 531 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 CNKLEILETIVDRIVRAEVH RLVVVNEADSIVGIISLSDIL
Mouse CSKLETLETIVDRIVRAEVH RLVVVNEADSIVGIISLSDIL
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
1 – 569 5'-AMP-activated protein kinase subunit gamma-2
504 – 562 CBS 4
530 – 531 AMP, ADP or ATP 2
530 – 530 AMP 3
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Burwinkel B.; Scott J.W.; Buehrer C.; van Landeghem F.K.H.; Cox G.F.; Wilson C.J.; Grahame Hardie D.; Kilimann M.W.;
Am. J. Hum. Genet. 76:1034-1049(2005)
Cited for: VARIANT GSDH GLN-531; CHARACTERIZATION OF VARIANT GSDH GLN-531;
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