Sequence information
Variant position: 188 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:
LSRIYLAAHFPHQVVAGVLS
G IAVAETFSHIHSIYNASLKK
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 LSRIYLAAHFPHQVVAGVLSG IAVAETFSHIHSIYNASLKK
Mouse LSRIYLAAHFPHQVVAGVLSG IAVAETFSHIRGIYNASLRK
Rat LSRIYLAAHFPHQVVAGVLSG IAVAETFSHIRGIYNASLQR
Bovine LSRIYLAAHFPHQVVAGVLSG IAVAETFRHIQSIYNASLKK
Cat LSRIYLAAHFPHQVVAGVLSG IAVAETFRHIQSIYNASLKK
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
180 – 202
Helical
Active site
176 – 176
Nucleophile
Binding site
170 – 170
Substrate
Alternative sequence
176 – 356
Missing. In isoform 2.
Mutagenesis
176 – 176
H -> AIKMNSR. Loss of glucose-6-phosphatase activity.
Mutagenesis
179 – 179
H -> A. Loss of glucose-6-phosphatase activity.
Mutagenesis
197 – 197
H -> T. Partial loss of glucose-6-phosphatase activity.
Literature citations
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;
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.
Kozak L.; Francova H.; Hrabincova E.; Stastna S.; Peskova K.; Elleder M.;
Hum. Mutat. 16:89-89(2000)
Cited for: VARIANTS GSD1A ASN-76; ARG-77; CYS-83; ALA-166; ARG-188 AND CYS-295;
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;
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
Weston B.W.; Lin J.L.; Muenzer J.; Cameron H.S.; Arnold R.R.; Seydewitz H.H.; Mayatepek E.; Van Schaftingen E.; Veiga-da-Cunha M.; Matern D.; Chen Y.T.;
Pediatr. Res. 48:329-334(2000)
Cited for: VARIANT GSD1A ARG-188; CHARACTERIZATION OF VARIANT GSD1A ARG-188; CATALYTIC ACTIVITY; FUNCTION;
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;
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.