Variant position: 266 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 357 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 EQPEWVHIDTTPFASLLKNL GTLFGLGLALNSSMYRESCKG
Mouse ERPEWVHLDTTPFASLFKNL GTLLGLGLALNSSMYRKSCKG
Rat ERPEWVHLDTTPFASLFKNL GTLLGLGLALNSSMYRKSCKG
Bovine ERPEWVHIDTTPFASLLKNL GTLFGLGLALNSSMYRESCKG
Cat ERPEWVHIDTTPFASLLKNV GTLFGLGLALNSSMYRESCKG
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 – 357 Glucose-6-phosphatase catalytic subunit 1
255 – 275 Helical
176 – 356 Missing. In isoform 2.
252 – 252 H -> A. Partial loss of glucose-6-phosphatase activity.
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified.
Rake J.P.; ten Berge A.M.; Verlind E.; Visser G.; Niezen-Koning K.E.; Buys C.H.C.M.; Smit G.P.; Scheffer H.;
Hum. Mutat. 13:173-173(1999)
Cited for: VARIANTS GSD1A VAL-266 AND PHE-338;
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