Variant position: 686 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 842 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 QISTAGTEASGTGNMKFMLN GALTIGTMDGANVEMAEEAGE
Mouse QISTAGTEASGTGNMKFMLN GALTIGTMDGANVEMAEEAGE
Rat QISTAGTEASGTGNMKFMLN GALTIGTMDGANVEMAEEAGE
Bovine QISTAGTEASGTGNMKFMLN GALTIGTMDGANVEMAEEAGE
Rabbit QISTAGTEASGTGNMKFMLN GALTIGTMDGANVEMAEEAGE
Sheep QISTAGTEASGTGNMKFMLN GALTIGTMDGANVEMAEEAGE
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 – 842 Glycogen phosphorylase, muscle form
681 – 681 N6-(pyridoxal phosphate)lysine
683 – 686
Mutation analysis in myophosphorylase deficiency (McArdle's disease).
Vorgerd M.; Kubisch C.; Burwinkel B.; Reichmann H.; Mortier W.; Tettenborn B.; Pongratz D.; Lindemuth R.; Tegenthoff M.; Malin J.P.; Kilimann M.W.;
Ann. Neurol. 43:326-331(1998)
Cited for: VARIANTS GSD5 GLU-666 AND ARG-686;
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