Variant position: 83 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 WVAVIGDWLNLVFKWILFGQ RPYWWVLDTDYYSNTSVPLIK
Mouse WVAVVGDWFNLVFKWILFGQ RPYWWVLDTDYYSNSSVPIIK
Rat WVAVVGDWFNLVFKWILFGQ RPYWWVLDTDYYSNSSVPLIK
Bovine WVAVIGDWLNLVFKWILFGQ RPYWWVLDTDYYSNTSAPLIK
Cat WVAVIGDWLNLVFKWILFGQ RPYWWVMDTDYYSNASVPLIK
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
82 – 117 Lumenal
83 – 83 Substrate
96 – 96 N-linked (GlcNAc...) asparagine
Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.
Lee W.J.; Lee H.M.; Chi C.S.; Shu S.G.; Lin L.Y.; Lin W.H.;
Clin. Genet. 50:206-211(1996)
Cited for: VARIANTS GSD1A HIS-83 AND ASN-341;
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;
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D.; Seydewitz H.H.; Bali D.; Lang C.; Chen Y.-T.;
Eur. J. Pediatr. 161:S10-S19(2002)
Cited for: VARIANTS GSD1A ARG-20; VAL-38; PRO-65; ARG-68; ARG-77; ARG-81; CYS-83; HIS-83; LYS-110; LEU-113; LEU-156; GLN-170; CYS-177; SER-178; ARG-188; SER-188; ARG-236; PRO-265; VAL-270; PHE-327 DEL AND ARG-345;
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.