Variant position: 66 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 QTWVHRYGESILPTTLTTLW SLSVAIFSVGGMIGSFSVGLF
Mouse QTWNHRYGEPIPSTTLTTLW SLSVAIFSVGGMIGSFSVGLF
Rat QTWNHRYGESIPSTTLTTLW SLSVAIFSVGGMIGSFSVGLF
Pig QTWLHRYGESISPATLTTLW SLSVAIFSVGGMIGSFSVGLF
Bovine QTWVQRYGEPIPPATLTTLW SLSVAIFSVGGMIGSFSVGLF
Rabbit QTWIHRYGERILPTTLTTLW SLSVAIFSVGGMIGSFSVGLF
Sheep QTWMQRYGEPIPPATLTTLW SLSVAIFSVGGMIGSFSVGLF
Chicken HTWLYRYEEPISPATLTTLW SLSVAIFSVGGMIGSFSVGLF
Drosophila DVYKDRYGEDISEEFIQQLY SVAVSIFAIGGMLGGFSGGWM
Baker's yeast -------------------- -----------LMGRSGSGKS
Fission yeast -------------------- -----------LMGRSGSGKS
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
34 – 66 Extracellular
58 – 90
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
Wang D.; Kranz-Eble P.; De Vivo D.C.;
Hum. Mutat. 16:224-231(2000)
Cited for: VARIANTS GLUT1DS1 PHE-66; LEU-126; LYS-146; GLU-256 AND TRP-333;
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