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UniProtKB/Swiss-Prot P11166: Variant p.Ser324Leu

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

Variant position:  324
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Serine (S) to Leucine (L) at position 324 (S324L, p.Ser324Leu).
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 (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Variant description:  In GLUT1DS2; mild phenotype; reduced transporter activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  324
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:   QQPVYATIGSGIVNTAFTVV  S LFVVERAGRRTLHLIGLAGM
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                         QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Mouse                         QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Rat                           QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Pig                           QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Bovine                        QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Rabbit                        QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Sheep                         QQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Chicken                       EQPVYATIGSGVVNTAFTVVSLFVVERAGRRTLHLIGLAGM

Drosophila                    ESAKFATIGIGAIMVVMTLVSIPLMDRTGRRTLHLYGLGGM

Baker's yeast                 ------------LYKAWSQIVCSLIPNMSNHQSNLKKFK--

Fission yeast                 ------------LFKAWSAIVYTLIPNTPTLESHLREFA--

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
Mutagenesis 340 – 340 G -> C. Strongly decreases glucose transport.
Helix 306 – 327


Literature citations

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A.; Mullen S.A.; Weber Y.G.; Verhaert K.; Ceulemans B.; Guerrini R.; Wuttke T.V.; Salvo-Vargas A.; Deprez L.; Claes L.R.; Jordanova A.; Berkovic S.F.; Lerche H.; De Jonghe P.; Scheffer I.E.;
Ann. Neurol. 66:415-419(2009)
Cited for: VARIANT EIG12 PRO-223; VARIANTS GLUT1DS2 CYS-126 AND LEU-324; CHARACTERIZATION OF VARIANT EIG12 PRO-223; CHARACTERIZATION OF VARIANTS GLUT1DS2 CYS-126 AND LEU-324;

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.