Variant position: 1448 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1532 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 YDNALDNDNYNLAKGFNYHQ GPEWLWPIGYFLRAKLYFSRL
Rabbit YDNALDNDNYNLAKGFNYHQ GPEWLWPVGYFLRAKLYFSKL
Horse YDNALDNDNYNLAKGFNYHQ GPEWLWPTGYFLRAKLYFSKL
Baker's yeast YNNGEDSDDFATSKGRNYHQ GPEWVWLYGYFLRAFHHFHFK
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 – 1532 Glycogen debranching enzyme
A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
Cheng A.; Zhang M.; Gentry M.S.; Worby C.A.; Dixon J.E.; Saltiel A.R.;
Genes Dev. 21:2399-2409(2007)
Cited for: UBIQUITINATION; CHARACTERIZATION OF VARIANT GSD3 ARG-1448; INTERACTION WITH NHLRC1; SUBCELLULAR LOCATION;
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
Okubo M.; Kanda F.; Horinishi A.; Takahashi K.; Okuda S.; Chihara K.; Murase T.;
Hum. Mutat. 14:542-543(1999)
Cited for: VARIANT GSD3 ARG-1448; VARIANT ARG-1115;
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