Sequence information
Variant position: 92 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:
FSVGGMIGSFSVGLFVNRFG
R RNSMLMMNLLAFVSAVLMGF
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 FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFVSAVLMGF
Mouse FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFVAAVLMGF
Rat FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFVSAVLMGF
Pig FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFISAVLMGF
Bovine FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFVSAVLMGF
Rabbit FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFVSAVLMGF
Sheep FSVGGMIGSFSVGLFVNRFGR RNSMLMMNLLAFVSAVLMGF
Chicken FSVGGMIGSFSVGLFVNRFGR RNSMLMSNILAFLAAVLMGF
Drosophila FAIGGMLGGFSGGWMANRFGR KGGLLLNNVLGIAGACLMGF
Baker's yeast -----LMGRSGSGKSSMR--- --SIIFSNYSAFDTRRLGAT
Fission yeast -----LMGRSGSGKSSMR--- --SIVFSNYVAKDTRRLGAT
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
Helix
92 – 111
Literature citations
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Schneider S.A.; Paisan-Ruiz C.; Garcia-Gorostiaga I.; Quinn N.P.; Weber Y.G.; Lerche H.; Hardy J.; Bhatia K.P.;
Mov. Disord. 24:1684-1688(2009)
Cited for: VARIANTS GLUT1DS2 TRP-92 AND GLN-333;
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.