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UniProtKB/Swiss-Prot P11166 : Variant p.Glu243Val
Solute carrier family 2, facilitated glucose transporter member 1
Gene: SLC2A1
Variant information
Variant position: 243 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]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 Glutamate (E) to Valine (V) at position 243 (E243V, p.Glu243Val).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 medium size and acidic (E) to medium size and hydrophobic (V)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2The 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 EIG12; decreased glucose transport.Any additional useful information about the variant.
Sequence information
Variant position: 243 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:
RAKSVLKKLRGTADVTHDLQ
E MKEESRQMMREKKVTILELF
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 RAKSVLKKLRGTADVTHDLQE MKEESRQMMREKKVTILELF
Mouse RAKSVLKKLRGTADVTRDLQE MKEEGRQMMREKKVTILELF
Rat RAKSVLKKLRGTADVTRDLQE MKEEGRQMMREKKVTILELF
Pig RAKSVLKKLRGTADVTRDLQE MKEESRQMMREKKVTILELF
Bovine RAKSVLKKLRGTADVTRDLQE MKEESRQMMREKKVTILELF
Rabbit RAKSVLKKLRGNADVTRDLQE MKEESRQMMREKKVTILELF
Sheep RAKSVLKKLRGTADVTRDLQE MKEESRQMMREKKVTILELF
Chicken KAKSVLKKLRGTTDVSSDLQE MKEESRQMMREKKVTIMELF
Drosophila EARKALRRLRASGSVEEDIEE MRAEERAQQSESHISTMELI
Baker's yeast ------------------MDL VQLDKREELFQ---------
Fission yeast ------------------MDL VQEDLRDLVFEER-------
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.
Type Positions Description
Chain
1 – 492
Solute carrier family 2, facilitated glucose transporter member 1
Topological domain
207 – 271
Cytoplasmic
Modified residue
226 – 226
Phosphoserine; by PKC/PRKCB
Mutagenesis
226 – 226
S -> A. Abolishes phosphorylation by PKA, leading to impaired response to TPA.
Helix
238 – 252
Literature citations
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T.; Mullen S.A.; Rogers S.; Phillips A.M.; Lawrence K.M.; Damiano J.A.; Goldberg-Stern H.; Afawi Z.; Kivity S.; Trager C.; Petrou S.; Berkovic S.F.; Scheffer I.E.;
Ann. Neurol. 72:807-815(2012)
Cited for: VARIANTS EIG12 HIS-51; MET-60; THR-77; ALA-149; SER-218; GLN-223; VAL-243; SER-411 AND TRP-458; CHARACTERIZATION OF VARIANTS EIG12 MET-60; THR-77; SER-218; GLN-223; VAL-243; SER-411 AND TRP-458;
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.