Variant position: 54 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 SVIADLRNAFYVLFPIWFHL QEAVGIKLLWVAVIGDWLNLV
Mouse SVIADLRNAFYVLFPIWFHL KETVGINLLWVAVVGDWFNLV
Rat SVIADLRNAFYVLFPIWFHI QETVGINLLWVAVVGDWFNLV
Bovine SVIADLRNAFYVLFPIWFHL REAVGIKLLWVAVIGDWLNLV
Cat SVIADLRNAFYVLFPIWFHL REAVGIKLLWVAVIGDWLNLV
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
50 – 60 Cytoplasmic
52 – 52 H -> A. Partial loss of glucose-6-phosphatase activity.
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia.
Trioche P.; Francoual J.; Chalas J.; Capel L.; Bernard O.; Labrune P.;
Hum. Mutat. 14:91-91(1999)
Cited for: VARIANTS GSD1A PRO-54 AND ILE-108;
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 Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
Angaroni C.J.; de Kremer R.D.; Argarana C.E.; Paschini-Capra A.E.; Giner-Ayala A.N.; Pezza R.J.; Pan C.-J.; Chou J.Y.;
Mol. Genet. Metab. 83:276-279(2004)
Cited for: VARIANTS GSD1A ARG-16; PRO-54; CYS-83 AND CYS-209; CHARACTERIZATION OF VARIANTS GSD1A ARG-16 AND CYS-209; CATALYTIC ACTIVITY; FUNCTION;
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.