UniProtKB/SwissProt variant VAR

Glycogenin-1
Gene: GYG1
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Variant information Variant position:

83
Type of variant:

LP/P [Disclaimer]
Residue change:

From Threonine (T) to Methionine (M) at position 83 (T83M, p.Thr83Met).
Physico-chemical properties:

Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score:

-1
Variant description:

In GSD15; loss of autoglucosylation.
Other resources:

Variant rs267606858 [ dbSNP | Ensembl ]

Sequence information Variant position:

83
Protein sequence length:

350
Location on the sequence:

VLDSGDSAHLTLMKRPELGV T LTKLHCWSLTQYSKCVFMDA
Residue conservation:

Human                         VLDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVFMDA

Mouse                         VLDSGDSAHLTLMKRPELGITLTKLHCWSLTQYSKCVFMDA

Rat                           VLDSGDSAHLTLMKRPELGITLTKLHCWSLTQYSKCVFMDA

Rabbit                        ILDSGDSAHLTLMKRPELGVTLTKLHCWSLTQYSKCVFMDA

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 350	Glycogenin-1
Binding site	77 – 77
Binding site	77 – 77
Binding site	86 – 86
Binding site	102 – 102
Binding site	102 – 102
Binding site	102 – 102
Binding site	103 – 103
Binding site	103 – 103
Site	86 – 86	Important for catalytic activity
Helix	80 – 91

Literature citations
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;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P46976: Variant p.Thr83Met