Variant position:  83

Type of variant:  LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.]

Residue change:  From Arginine (R) to Cysteine (C) at position 83 (R83C, p.Arg83Cys).

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)

BLOSUM score:  -3

Variant description:  In GSD1A; complete loss of glucose-6-phosphatase activity; prevalent mutation in Ashkenazi Jewish population.

Other resources:  

• Variant rs1801175 [ dbSNP | Ensembl ]

Variant position:  83

Protein sequence length:  357

Location on the sequence:   WVAVIGDWLNLVFKWILFGQ  R PYWWVLDTDYYSNTSVPLIK

Residue conservation: 

Human                         WVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIK

Mouse                         WVAVVGDWFNLVFKWILFGQRPYWWVLDTDYYSNSSVPIIK

Rat                           WVAVVGDWFNLVFKWILFGQRPYWWVLDTDYYSNSSVPLIK

Bovine                        WVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSAPLIK

Cat                           WVAVIGDWLNLVFKWILFGQRPYWWVMDTDYYSNASVPLIK

Sequence annotation in neighborhood:  

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;