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UniProtKB/Swiss-Prot P35575: Variant p.Arg83Cys

Glucose-6-phosphatase catalytic subunit 1
Gene: G6PC1
Variant information

Variant position:  83
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Cysteine (C) at position 83 (R83C, p.Arg83Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In GSD1A; complete loss of glucose-6-phosphatase activity; prevalent mutation in Ashkenazi Jewish population.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   WVAVIGDWLNLVFKWILFGQ  R PYWWVLDTDYYSNTSVPLIK
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                         WVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIK

Mouse                         WVAVVGDWFNLVFKWILFGQRPYWWVLDTDYYSNSSVPIIK

Rat                           WVAVVGDWFNLVFKWILFGQRPYWWVLDTDYYSNSSVPLIK

Bovine                        WVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSAPLIK

Cat                           WVAVIGDWLNLVFKWILFGQRPYWWVMDTDYYSNASVPLIK

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.

TypePositionsDescription
Chain 1 – 357 Glucose-6-phosphatase catalytic subunit 1
Topological domain 82 – 117 Lumenal
Binding site 83 – 83 Substrate
Glycosylation 96 – 96 N-linked (GlcNAc...) asparagine


Literature citations

The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.
Ghosh A.; Shieh J.-J.; Pan C.-J.; Sun M.-S.; Chou J.Y.;
J. Biol. Chem. 277:32837-32842(2002)
Cited for: ACTIVE SITES; MUTAGENESIS OF HIS-9; HIS-52; HIS-119; HIS-176; HIS-179; HIS-197; HIS-252; HIS-307 AND HIS-353; CHARACTERIZATION OF VARIANTS ASN-76; CYS-83 AND GLN-170; CATALYTIC ACTIVITY; FUNCTION;

Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
Lei K.J.; Pan C.J.; Shelly L.L.; Liu J.L.; Chou J.Y.;
J. Clin. Invest. 93:1994-1999(1994)
Cited for: VARIANT GSD1A CYS-83;

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
Parvari R.; Moses S.; Hershkovitz E.; Carmi R.; Bashan N.;
J. Inherit. Metab. Dis. 18:21-27(1995)
Cited for: VARIANTS GSD1A CYS-83 AND GLY-166;

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
Parvari R.; Lei K.J.; Bashan N.; Hershkovitz E.; Korman S.H.; Barash V.; Lerman-Sagie T.; Mandel H.; Chou J.Y.; Moses S.W.;
Am. J. Med. Genet. 72:286-290(1997)
Cited for: VARIANTS GSD1A CYS-83 AND GLY-166; CHARACTERIZATION OF VARIANT GSD1A GLY-166; FUNCTION; CATALYTIC ACTIVITY;

Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.
Huener G.; Podskarbi T.; Schuetz M.; Baykal T.; Sarbat G.; Shin Y.S.; Demirkol M.;
J. Inherit. Metab. Dis. 21:445-446(1998)
Cited for: VARIANTS GSD1A CYS-83; GLN-170 AND TRP-270;

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.
Keller K.M.; Schuetz M.; Podskarbi T.; Bindl L.; Lentze M.J.; Shin Y.S.;
J. Pediatr. 132:360-361(1998)
Cited for: VARIANTS GSD1A CYS-83 AND LYS-264;

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;

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;

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;

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
Ekstein J.; Rubin B.Y.; Anderson S.L.; Weinstein D.A.; Bach G.; Abeliovich D.; Webb M.; Risch N.;
Am. J. Med. Genet. A 129:162-164(2004)
Cited for: VARIANT GSD1A CYS-83;

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;

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.