Variant position: 91 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 IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFVSAVLMG
Mouse IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFVAAVLMG
Rat IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFVSAVLMG
Pig IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFISAVLMG
Bovine IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFVSAVLMG
Rabbit IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFVSAVLMG
Sheep IFSVGGMIGSFSVGLFVNRF GRRNSMLMMNLLAFVSAVLMG
Chicken IFSVGGMIGSFSVGLFVNRF GRRNSMLMSNILAFLAAVLMG
Drosophila IFAIGGMLGGFSGGWMANRF GRKGGLLLNNVLGIAGACLMG
Baker's yeast ------LMGRSGSGKSSMR- ----SIIFSNYSAFDTRRLGA
Fission yeast ------LMGRSGSGKSSMR- ----SIVFSNYVAKDTRRLGA
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
91 – 112 Helical; Name=3
Autosomal dominant transmission of GLUT1 deficiency.
Klepper J.; Willemsen M.; Verrips A.; Guertsen E.; Herrmann R.; Kutzick C.; Floercken A.; Voit T.;
Hum. Mol. Genet. 10:63-68(2001)
Cited for: VARIANT GLUT1DS1 ASP-91;
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
Mullen S.A.; Suls A.; De Jonghe P.; Berkovic S.F.; Scheffer I.E.;
Cited for: VARIANTS GLUT1DS2 ILE-95; PRO-223; SER-314 AND LEU-324; VARIANTS GLUT1DS1 ASP-91 AND HIS-126;
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.