Variant position: 286 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 PAYRQPILIAVVLQLSQQLS GINAVFYYSTSIFEKAGV--QQP
Mouse PAYRQPILIAVVLQLSQQLS GINAVFYYSTSIFEKAGV--Q
Rat PAYRQPILIAVVLQLSQQLS GINAVFYYSTSIFEKAGV--Q
Pig AAYRQPILIAVVLQLSQQLS GINAVFYYSTSIFEKAGV--Q
Bovine AAYRQPILIAVVLQLSQQLS GINAVFYYSTSIFEKAGV--Q
Rabbit PAYRQPILSAVVLQLSQQLS GINAVFYYSTSIFEKAGV--Q
Sheep AAYRQPILIAVVLQLSQQLS GINAVFYYSTSIFEKAGV--Q
Chicken PMYRQPILIAIVLQLSQQLS GINAVFYYSTSIFEKSGV--E
Drosophila PTLRPPLIIGIVMQLSQQFS GINAVFYYSTSLFMSSGLTEE
Baker's yeast ------IMMKNLSETSSEF- GFPNLIGFPTSIWDES-----
Fission yeast --------KAILLETSKDL- ---ETTCLATSIWDET-----
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 – 288 Monosaccharide binding
282 – 282 Cytochalasin b inhibitor
284 – 286
Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
Flatt J.F.; Guizouarn H.; Burton N.M.; Borgese F.; Tomlinson R.J.; Forsyth R.J.; Baldwin S.A.; Levinson B.E.; Quittet P.; Aguilar-Martinez P.; Delaunay J.; Stewart G.W.; Bruce L.J.;
Cited for: INVOLVEMENT IN SDCHCN; VARIANTS SDCHCN ASP-286 AND ILE-435 DEL; CHARACTERIZATION OF VARIANTS SDCHCN ASP-286 AND ILE-435 DEL;
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.