Sequence information
Variant position: 126 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:
SAVLMGFSKLGKSFEMLILG
R FIIGVYCGLTTGFVPMYVGE
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 SAVLMGFSKLGKSFEMLILGR FIIGVY-CGLTTGFVPMYVGE
Mouse AAVLMGFSKLGKSFEMLILGR FIIGVY-CGLTTGFVPMYVG
Rat SAVLMGFSKLGKSFEMLILGR FIIGVY-CGLTTGFVPMYVG
Pig SAVLMGFSKLGKSFEMLILGR FIIGVY-CGLTTGFVPMYVG
Bovine SAVLMGFSKLGKSFEMLILGR FIIGVY-CGLTTGFVPMYVG
Rabbit SAVLMGFSKLAKSFEMLILGR FIIGVY-CGLTTGFVPMYVG
Sheep SAVLMGFSKLGKSFEMLILGR FIIGVY-CGLTTGFVPMYVG
Chicken AAVLMGFSKMALSFEMLILGR FIIGLY-SGLTTGFVPMYVG
Drosophila GACLMGFTKVSHSYEMLFLGR FIIGVN-CGLNTSLVPMYIS
Baker's yeast TRRLGATIDVEHSH-LRFLGN MTLNLWDCGGQDVFMENYFT
Fission yeast TRRLGATIDIEHSH-VRFLGN LVLNLWDCGGQEAFMENYLS
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
121 – 144
Helical; Name=4
Binding site
137 – 137
Helix
119 – 147
Literature citations
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Pascual J.M.; van Heertum R.L.; Wang D.; Engelstad K.; De Vivo D.C.;
Ann. Neurol. 52:458-464(2002)
Cited for: VARIANTS GLUT1DS1 CYS-126; HIS-126; LYS-146; CYS-153 AND TRP-333;
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A.; Mullen S.A.; Weber Y.G.; Verhaert K.; Ceulemans B.; Guerrini R.; Wuttke T.V.; Salvo-Vargas A.; Deprez L.; Claes L.R.; Jordanova A.; Berkovic S.F.; Lerche H.; De Jonghe P.; Scheffer I.E.;
Ann. Neurol. 66:415-419(2009)
Cited for: VARIANT EIG12 PRO-223; VARIANTS GLUT1DS2 CYS-126 AND LEU-324; CHARACTERIZATION OF VARIANT EIG12 PRO-223; CHARACTERIZATION OF VARIANTS GLUT1DS2 CYS-126 AND LEU-324;
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
Weber Y.G.; Kamm C.; Suls A.; Kempfle J.; Kotschet K.; Schule R.; Wuttke T.V.; Maljevic S.; Liebrich J.; Gasser T.; Ludolph A.C.; Van Paesschen W.; Schols L.; De Jonghe P.; Auburger G.; Lerche H.;
Neurology 77:959-964(2011)
Cited for: VARIANTS DYT9 CYS-126 AND CYS-212;
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.