Variant position: 257 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 TLEKAQRWCEQPEWVHIDTT PFASLLKNLGTLFGLGLALNS
Mouse TLEKAKRWCERPEWVHLDTT PFASLFKNLGTLLGLGLALNS
Rat TLEKAKRWCERPEWVHLDTT PFASLFKNLGTLLGLGLALNS
Bovine TLEKAKRRCERPEWVHIDTT PFASLLKNLGTLFGLGLALNS
Cat TLEKARRWCERPEWVHIDTT PFASLLKNVGTLFGLGLALNS
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
255 – 275 Helical
176 – 356 Missing. In isoform 2.
252 – 252 H -> A. Partial loss of catalytic activity.
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
Akanuma J.; Nishigaki T.; Fujii K.; Matsubara Y.; Inui K.; Takahashi K.; Kure S.; Suzuki Y.; Ohura T.; Miyabayashi S.; Ogawa E.; Iinuma K.; Okada S.; Narisawa K.;
Am. J. Med. Genet. 91:107-112(2000)
Cited for: VARIANTS GSD1A HIS-83; ASP-122; PRO-179 AND LEU-257;
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