Sequence information
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:
IFSVGGMIGSFSVGLFVNRF
G RRNSMLMMNLLAFVSAVLMG
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 IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFVSAVLMG
Mouse IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFVAAVLMG
Rat IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFVSAVLMG
Pig IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFISAVLMG
Bovine IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFVSAVLMG
Rabbit IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFVSAVLMG
Sheep IFSVGGMIGSFSVGLFVNRFG RRNSMLMMNLLAFVSAVLMG
Chicken IFSVGGMIGSFSVGLFVNRFG RRNSMLMSNILAFLAAVLMG
Drosophila IFAIGGMLGGFSGGWMANRFG RKGGLLLNNVLGIAGACLMG
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
Chain
1 – 492
Solute carrier family 2, facilitated glucose transporter member 1
Transmembrane
91 – 112
Helical; Name=3
Literature citations
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.;
Neurology 75:432-440(2010)
Cited for: VARIANTS GLUT1DS2 ILE-95; PRO-223; SER-314 AND LEU-324; VARIANTS GLUT1DS1 ASP-91 AND HIS-126;
Disclaimer:
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.