Variant position: 165 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 GEVSPTALRGALGTLHQLGI VVGILIAQVFGLDSIMGNKDL
Mouse GEVSPTALRGALGTLHQLGI VVGILIAQVFGLDSIMGNADL
Rat GEVSPTALRGALGTLHQLGI VVGILIAQVFGLDSIMGNADL
Pig GEVSPTALRGALGTLHQLGI VVGILIAQVFGLDSIMGNEEL
Bovine GEVSPTELRGALGTLHQLGI VVGILIAQVFGLDSIMGNQEL
Rabbit GEVSPTALRGALGTLHQLGI VVGILIAQVFGLDSIMGNEDL
Sheep GEVSPTELRGALGTLHQLGI VVGILIAQVFGLDSIMGNQEL
Chicken GEVSPTALRGALGTFHQLGI VLGILIAQVFGLDLIMGNDSL
Drosophila SEIAPLNLRGGLGTVNQLAV TVGLLLSQVLGIEQILGTNEG
Baker's yeast TKQKDHIFQ----------- MVQVLI-HVFDVESTEVLKDI
Fission yeast SAQRDHIFR----------- NVQVLI-YVFDVESREFERDL
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
156 – 176 Helical; Name=5
159 – 173
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.
Urbizu A.; Cuenca-Leon E.; Raspall-Chaure M.; Gratacos M.; Conill J.; Redecillas S.; Roig-Quilis M.; Macaya A.;
J. Neurol. Sci. 295:110-113(2010)
Cited for: VARIANT GLUT1DS2 ILE-165;
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