Variant position: 83 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 350 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 VLDSGDSAHLTLMKRPELGV TLTKLHCWSLTQYSKCVFMDA
Mouse VLDSGDSAHLTLMKRPELGI TLTKLHCWSLTQYSKCVFMDA
Rat VLDSGDSAHLTLMKRPELGI TLTKLHCWSLTQYSKCVFMDA
Rabbit ILDSGDSAHLTLMKRPELGV TLTKLHCWSLTQYSKCVFMDA
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.
Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis.
Chaikuad A.; Froese D.S.; Berridge G.; von Delft F.; Oppermann U.; Yue W.W.;
Proc. Natl. Acad. Sci. U.S.A. 108:21028-21033(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (1.45 ANGSTROMS) OF 1-262 OF WILD-TYPE AND VARIANT GSD15 MET-83 IN COMPLEXES WITH MANGANESE; UDP AND UDP-ALPHA-D-GLUCOSE; FUNCTION; CATALYTIC ACTIVITY; SUBUNIT; PATHWAY; GLYCOSYLATION AT TYR-195; COFACTOR; MUTAGENESIS OF TYR-195; CHARACTERIZATION OF VARIANT GSD15 MET-83;
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.
Moslemi A.R.; Lindberg C.; Nilsson J.; Tajsharghi H.; Andersson B.; Oldfors A.;
N. Engl. J. Med. 362:1203-1210(2010)
Cited for: VARIANT GSD15 MET-83; CHARACTERIZATION OF VARIANT GSD15 MET-83;
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