Sequence information
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:
TLEKAQRWCEQPEWVHIDTT
P FASLLKNLGTLFGLGLALNS
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 TLEKAQRWCEQPEWVHIDTTP FASLLKNLGTLFGLGLALNS
Mouse TLEKAKRWCERPEWVHLDTTP FASLFKNLGTLLGLGLALNS
Rat TLEKAKRWCERPEWVHLDTTP FASLFKNLGTLLGLGLALNS
Bovine TLEKAKRRCERPEWVHIDTTP FASLLKNLGTLFGLGLALNS
Cat TLEKARRWCERPEWVHIDTTP FASLLKNVGTLFGLGLALNS
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
Chain
1 – 357
Glucose-6-phosphatase catalytic subunit 1
Transmembrane
255 – 275
Helical
Alternative sequence
176 – 356
Missing. In isoform 2.
Mutagenesis
252 – 252
H -> A. Partial loss of glucose-6-phosphatase activity.
Literature citations
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;
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.