Variant position: 51 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:
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 GVINAPQKVIEEFYNQTWVH RYGESILPTTLTTLWSLSVAI
Mouse GVINAPQKVIEEFYNQTWNH RYGEPIPSTTLTTLWSLSVAI
Rat GVINAPQKVIEEFYNQTWNH RYGESIPSTTLTTLWSLSVAI
Pig GVINAPQKVIEEFYNQTWLH RYGESISPATLTTLWSLSVAI
Bovine GVINAPQKVIEEFYNQTWVQ RYGEPIPPATLTTLWSLSVAI
Rabbit GVINAPQKVIEEFYNQTWIH RYGERILPTTLTTLWSLSVAI
Sheep GVINAPQKVIEEFYNQTWMQ RYGEPIPPATLTTLWSLSVAI
Chicken GVINRPQKVIEDFYNHTWLY RYEEPISPATLTTLWSLSVAI
Drosophila GVINAPEKNIENFMKDVYKD RYGEDISEEFIQQLYSVAVSI
Baker's yeast MSSNNRKKLL---------- ---------------------
Fission yeast ----MRKKVL---------- ---------------------
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
1 – 492 Solute carrier family 2, facilitated glucose transporter member 1
34 – 66 Extracellular
45 – 45 N-linked (GlcNAc...) asparagine
45 – 45 N -> T. Loss of glycosylation site.
37 – 52
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;
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.