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UniProtKB/Swiss-Prot P11166: Variant p.Gly286Asp

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

Variant position:  286
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 Aspartate (D) at position 286 (G286D, p.Gly286Asp).
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 medium size and acidic (D)
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:  Stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN) [MIM:608885]: A rare form of stomatocytosis characterized by episodic hemolytic anemia, cold-induced red cells cation leak, erratic hyperkalemia, neonatal hyperbilirubinemia, hepatosplenomegaly, cataracts, seizures, mental retardation, and movement disorder. {ECO:0000269|PubMed:21791420, ECO:0000269|PubMed:22492876}. 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 SDCHCN; no effect on protein abundance; no effect on localization to the plasma membrane; loss of D-glucose transporter activity; increased cation leakage.
Any additional useful information about the variant.

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



Sequence information

Variant position:  286
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:   PAYRQPILIAVVLQLSQQLS  G INAVFYYSTSIFEKAGVQQP
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                         PAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV--QQP

Mouse                         PAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV--Q

Rat                           PAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV--Q

Pig                           AAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV--Q

Bovine                        AAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV--Q

Rabbit                        PAYRQPILSAVVLQLSQQLSGINAVFYYSTSIFEKAGV--Q

Sheep                         AAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGV--Q

Chicken                       PMYRQPILIAIVLQLSQQLSGINAVFYYSTSIFEKSGV--E

Drosophila                    PTLRPPLIIGIVMQLSQQFSGINAVFYYSTSLFMSSGLTEE

Baker's yeast                 ------IMMKNLSETSSEF-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
Transmembrane 272 – 293 Helical; Name=7
Region 282 – 288 Monosaccharide binding
Binding site 282 – 282 Cytochalasin b inhibitor
Turn 284 – 286


Literature citations

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
Flatt J.F.; Guizouarn H.; Burton N.M.; Borgese F.; Tomlinson R.J.; Forsyth R.J.; Baldwin S.A.; Levinson B.E.; Quittet P.; Aguilar-Martinez P.; Delaunay J.; Stewart G.W.; Bruce L.J.;
Blood 118:5267-5277(2011)
Cited for: INVOLVEMENT IN SDCHCN; VARIANTS SDCHCN ASP-286 AND ILE-435 DEL; CHARACTERIZATION OF VARIANTS SDCHCN ASP-286 AND ILE-435 DEL;

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.