Variant position: 34 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 LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWVHRYGE
Mouse LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWNHRYGE
Rat LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWNHRYGE
Pig LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWLHRYGE
Bovine LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWVQRYGE
Rabbit LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWIHRYGE
Sheep LAVGGAVLGSLQFGYNTGVI NAPQKVIEEFYNQTWMQRYGE
Chicken LAVGGAVLGSLQFGYNTGVI NRPQKVIEDFYNHTWLYRYEE
Drosophila YSIFSAVLGMLQFGYNTGVI NAPEKNIENFMKDVYKDRYGE
Baker's yeast -----------------MSS NNRKKLL--------------
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.
32 – 34
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D.; Pascual J.M.; Yang H.; Engelstad K.; Jhung S.; Sun R.P.; De Vivo D.C.;
Ann. Neurol. 57:111-118(2005)
Cited for: VARIANTS GLUT1DS1 SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333; CHARACTERIZATION OF VARIANTS GLUT1 DEFICIENCY SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333;
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.