Variant position: 317 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 IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRTLH
Mouse IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRT
Rat IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRT
Pig IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRT
Bovine IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRT
Rabbit IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRT
Sheep IFEKAGV--QQPVYATIGSGIV NTAFTVVSLFVVERAGRRT
Chicken IFEKSGV--EQPVYATIGSGVV NTAFTVVSLFVVERAGRRT
Drosophila LFMSSGLTEESAKFATIGIGAI MVVMTLVSIPLMDRTGRRT
Baker's yeast IWDES----------------L YKAWSQIVCSLIPNMSNHQ
Fission yeast IWDET----------------L FKAWSAIVYTLIPNTPTLE
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
307 – 328 Helical; Name=8
317 – 317 Monosaccharide
306 – 328
Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.
Afawi Z.; Suls A.; Ekstein D.; Kivity S.; Neufeld M.Y.; Oliver K.; De Jonghe P.; Korczyn A.D.; Berkovic S.F.;
Cited for: VARIANT GLUT1DS2 THR-317;
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