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UniProtKB/Swiss-Prot P11166: Variant p.Ser294Pro

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

Variant position:  294
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 Serine (S) to Proline (P) at position 294 (S294P, p.Ser294Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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.
Any additional useful information about the variant.



Sequence information

Variant position:  294
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:   IAVVLQLSQQLSGINAVFYY  S TSIFEKAGVQQPVYATIGSG
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                         IAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIGSG

Mouse                         IAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIG

Rat                           IAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIG

Pig                           IAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIG

Bovine                        IAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIG

Rabbit                        SAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIG

Sheep                         IAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQPVYATIG

Chicken                       IAIVLQLSQQLSGINAVFYYSTSIFEKSGV--EQPVYATIG

Drosophila                    IGIVMQLSQQFSGINAVFYYSTSLFMSSGLTEESAKFATIG

Baker's yeast                 MKNLSETSSEF-GFPNLIGFPTSIWDES-------------

Fission yeast                 KAILLETSKDL----ETTCLATSIWDET-------------

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
Topological domain 294 – 306 Extracellular
Binding site 282 – 282 Cytochalasin b inhibitor
Helix 288 – 301


Literature citations

Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Anheim M.; Maillart E.; Vuillaumier-Barrot S.; Flamand-Rouviere C.; Pineau F.; Ewenczyk C.; Riant F.; Apartis E.; Roze E.;
J. Neurol. 258:316-317(2011)
Cited for: VARIANT GLUT1DS2 PRO-294;

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.