Variant position: 38 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 YLQVNYQDSQDWFILVSVIA DLRNAFYVLFPIWFHLQEAVG
Mouse YLQVNYQDSQDWFILVSVIA DLRNAFYVLFPIWFHLKETVG
Rat YLQVNYEDSQDWFVLVSVIA DLRNAFYVLFPIWFHIQETVG
Bovine YLQVNYQNSQDWFILVSVIA DLRNAFYVLFPIWFHLREAVG
Cat YLQVNYQDSQDWFILVSVIA DLRNAFYVLFPIWFHLREAVG
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
29 – 49 Helical
52 – 52 H -> A. Partial loss of glucose-6-phosphatase activity.
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F.; Bozon D.; Bonardot A.-M.; Bruni N.; Mithieux G.; Mathieu M.; Maire I.;
J. Med. Genet. 33:358-360(1996)
Cited for: VARIANTS GSD1A VAL-38; ARG-77; LYS-110; THR-124; GLU-184; ARG-188 AND PRO-211;
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M.; Regis S.; DiRocco M.; Caroli F.; Gandullia P.; Gatti R.;
J. Inherit. Metab. Dis. 22:43-49(1999)
Cited for: VARIANTS GSD1A VAL-38; ARG-63; CYS-83; VAL-184; ARG-222; VAL-270; CYS-295; PRO-298 AND PHE-338;
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
Trioche P.; Francoual J.; Chalas J.; Capel L.; Lindenbaum A.; Odievre M.; Labrune P.;
Hum. Mutat. 16:444-444(2000)
Cited for: VARIANTS GSD1A ARG-5; VAL-38; PRO-54; CYS-83; ILE-108; LYS-110; ILE-111; GLU-184; ARG-188; THR-241; ARG-270; VAL-270; LEU-322; PHE-327 DEL AND PHE-338;
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.