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UniProtKB/Swiss-Prot O43826: Variant p.Trp118Arg

Glucose-6-phosphate exchanger SLC37A4
Gene: SLC37A4
Chromosomal location: 11q23.3
Variant information

Variant position:  118
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tryptophan (W) to Arginine (R) at position 118 (W118R, p.Trp118Arg).
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 aromatic (W) to large size and basic (R)
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

Involvement in disease:  Glycogen storage disease 1B (GSD1B) [MIM:232220]: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. {ECO:0000269|PubMed:10026167, ECO:0000269|PubMed:10482875, ECO:0000269|PubMed:10482962, ECO:0000269|PubMed:10518030, ECO:0000269|PubMed:10874322, ECO:0000269|PubMed:10923042, ECO:0000269|PubMed:10931421, ECO:0000269|PubMed:11071391, ECO:0000269|PubMed:11949931, ECO:0000269|PubMed:12409273, ECO:0000269|PubMed:15059622, ECO:0000269|PubMed:15669677, ECO:0000269|PubMed:15953877, ECO:0000269|PubMed:19579760, ECO:0000269|PubMed:21629566, ECO:0000269|PubMed:9428641, ECO:0000269|PubMed:9675154, ECO:0000269|PubMed:9758626, ECO:0000269|PubMed:9781688, ECO:0000269|PubMed:9856496, ECO:0000269|Ref.20}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In GSD1B.
Any additional useful information about the variant.

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

Sequence information

Variant position:  118
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  429
The length of the canonical 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.

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.

Chain 1 – 429 Glucose-6-phosphate exchanger SLC37A4
Transmembrane 105 – 125 Helical

Literature citations

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.
Ihara K.; Kuromaru R.; Hara T.;
Hum. Genet. 103:493-496(1998)

Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
Kure S.; Suzuki Y.; Matsubara Y.; Sakamoto O.; Shintaku H.; Isshiki G.; Hoshida C.; Izumi I.; Sakura N.; Narisawa K.;
Biochem. Biophys. Res. Commun. 248:426-431(1998)
Cited for: VARIANT GSD1B ARG-118;

Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.
Hou D.-C.; Kure S.; Suzuki Y.; Hasegawa Y.; Hara Y.; Inoue T.; Kida Y.; Matsubara Y.; Narisawa K.;
Am. J. Med. Genet. 86:253-257(1999)
Cited for: VARIANTS GSD1B ARG-118 AND VAL-235 DEL;

Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
Kojima K.; Kure S.; Kamada F.; Hao K.; Ichinohe A.; Sato K.; Aoki Y.; Yoichi S.; Kubota M.; Horikawa R.; Utsumi A.; Miura M.; Ogawa S.; Kanazawa M.; Kohno Y.; Inokuchi M.; Hasegawa T.; Narisawa K.; Matsubara Y.;
Mol. Genet. Metab. 81:343-346(2004)
Cited for: VARIANT GSD1B ARG-118;

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.