Variant position: 275 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 KKVTILELFRSPAYRQPILI AVVLQLSQQLSGINAVFYYST
Mouse KKVTILELFRSPAYRQPILI AVVLQLSQQLSGINAVFYYST
Rat KKVTILELFRSPAYRQPILI AVVLQLSQQLSGINAVFYYST
Pig KKVTILELFRSAAYRQPILI AVVLQLSQQLSGINAVFYYST
Bovine KKVTILELFRSAAYRQPILI AVVLQLSQQLSGINAVFYYST
Rabbit KKVTILELFRSPAYRQPILS AVVLQLSQQLSGINAVFYYST
Sheep KKVTILELFRSAAYRQPILI AVVLQLSQQLSGINAVFYYST
Chicken KKVTIMELFRSPMYRQPILI AIVLQLSQQLSGINAVFYYST
Drosophila SHISTMELICSPTLRPPLII GIVMQLSQQFSGINAVFYYST
Baker's yeast -----------------IMM KNLSETSSEF-GFPNLIGFPT
Fission yeast ER-----------------K AILLETSKDL----ETTCLAT
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
272 – 293 Helical; Name=7
282 – 282 Cytochalasin b inhibitor
269 – 283
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.
Weber Y.G.; Storch A.; Wuttke T.V.; Brockmann K.; Kempfle J.; Maljevic S.; Margari L.; Kamm C.; Schneider S.A.; Huber S.M.; Pekrun A.; Roebling R.; Seebohm G.; Koka S.; Lang C.; Kraft E.; Blazevic D.; Salvo-Vargas A.; Fauler M.; Mottaghy F.M.; Muenchau A.; Edwards M.J.; Presicci A.; Margari F.; Gasser T.; Lang F.; Bhatia K.P.; Lehmann-Horn F.; Lerche H.;
J. Clin. Invest. 118:2157-2168(2008)
Cited for: VARIANTS GLUT1DS2 THR-275; 282-GLN--SER-285 DEL AND SER-314;
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.