Variant position: 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 253 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 AILDGTDQMWLPVVRTWRLN ERHYGGLTGLNKAETAAKHGE
Mouse TILDVTDQMWVPVVRTWRLN ERHYGGLTGLNKAETAAKHGE
Rat TILDVTDQMWVPVVRTWRLN ERHYGGLTGLNKAETAAKHGE
Bovine TILDGTDQMWLPVVRTWRLN ERHYGGLTGLNKAETAAKHGE
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 – 253 Phosphoglycerate mutase 2
89 – 92 Substrate binding
89 – 89 Proton donor/acceptor
100 – 100 Substrate
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
Tsujino S.; Shanske S.; Sakoda S.; Fenichel G.; Dimauro S.;
Am. J. Hum. Genet. 52:472-477(1993)
Cited for: VARIANTS GSD10 ALA-89 AND TRP-90;
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