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UniProtKB/Swiss-Prot P11166: Variant p.Gly314Ser

Solute carrier family 2, facilitated glucose transporter member 1
Gene: SLC2A1
Variant information

Variant position:  314
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 Glycine (G) to Serine (S) at position 314 (G314S, p.Gly314Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO:0000269|PubMed:14605501, ECO:0000269|PubMed:18451999, ECO:0000269|PubMed:19630075, ECO:0000269|PubMed:19798636, ECO:0000269|PubMed:20129935, ECO:0000269|PubMed:20574033, ECO:0000269|PubMed:20621801, ECO:0000269|PubMed:20830593, ECO:0000269|PubMed:21204808}. 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 GLUT1DS2; the mutation decreases glucose transport but does not affect cation permeability.
Any additional useful information about the variant.

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



Sequence information

Variant position:  314
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  492
The length of the canonical sequence.

Location on the sequence:   STSIFEKAGVQQPVYATIGS  G IVNTAFTVVSLFVVERAGRR
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                         STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAGRR

Mouse                         STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAG

Rat                           STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAG

Pig                           STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAG

Bovine                        STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAG

Rabbit                        STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAG

Sheep                         STSIFEKAGV--QQPVYATIGSGIVNTAFTVVSLFVVERAG

Chicken                       STSIFEKSGV--EQPVYATIGSGVVNTAFTVVSLFVVERAG

Drosophila                    STSLFMSSGLTEESAKFATIGIGAIMVVMTLVSIPLMDRTG

Baker's yeast                 PTSIWDES----------------LYKAWSQIVCSLIPNMS

Fission yeast                 ATSIWDET----------------LFKAWSAIVYTLIPNTP

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 – 492 Solute carrier family 2, facilitated glucose transporter member 1
Transmembrane 307 – 328 Helical; Name=8
Binding site 317 – 317 Monosaccharide
Helix 306 – 328


Literature citations

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Weber Y.G.; Storch A.; Wuttke T.V.; Brockmann K.; Kempfle J.; Maljevic S.; Margari L.; Kamm C.; Schneider S.A.; Huber S.M.; Pekrun A.; Roebling R.; Seebohm G.; Koka S.; Lang C.; Kraft E.; Blazevic D.; Salvo-Vargas A.; Fauler M.; Mottaghy F.M.; Muenchau A.; Edwards M.J.; Presicci A.; Margari F.; Gasser T.; Lang F.; Bhatia K.P.; Lehmann-Horn F.; Lerche H.;
J. Clin. Invest. 118:2157-2168(2008)
Cited for: VARIANTS GLUT1DS2 THR-275; 282-GLN--SER-285 DEL AND SER-314;

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
Mullen S.A.; Suls A.; De Jonghe P.; Berkovic S.F.; Scheffer I.E.;
Neurology 75:432-440(2010)
Cited for: VARIANTS GLUT1DS2 ILE-95; PRO-223; SER-314 AND LEU-324; VARIANTS GLUT1DS1 ASP-91 AND HIS-126;

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.