Variant position: 294 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 IAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIGSG
Mouse IAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIG
Rat IAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIG
Pig IAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIG
Bovine IAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIG
Rabbit SAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIG
Sheep IAVVLQLSQQLSGINAVFYY STSIFEKAGV--QQPVYATIG
Chicken IAIVLQLSQQLSGINAVFYY STSIFEKSGV--EQPVYATIG
Drosophila IGIVMQLSQQFSGINAVFYY STSLFMSSGLTEESAKFATIG
Baker's yeast MKNLSETSSEF-GFPNLIGF PTSIWDES-------------
Fission yeast KAILLETSKDL----ETTCL ATSIWDET-------------
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
294 – 306 Extracellular
282 – 282 Cytochalasin b inhibitor
288 – 301
Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.
Anheim M.; Maillart E.; Vuillaumier-Barrot S.; Flamand-Rouviere C.; Pineau F.; Ewenczyk C.; Riant F.; Apartis E.; Roze E.;
J. Neurol. 258:316-317(2011)
Cited for: VARIANT GLUT1DS2 PRO-294;
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.