Sequence information
Variant position: 146 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:
RFIIGVYCGLTTGFVPMYVG
E VSPTALRGALGTLHQLGIVV
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 RFIIGVY-CGLTTGFVPMYVGE VSPTALRGALGTLHQLGIVV
Mouse RFIIGVY-CGLTTGFVPMYVGE VSPTALRGALGTLHQLGIV
Rat RFIIGVY-CGLTTGFVPMYVGE VSPTALRGALGTLHQLGIV
Pig RFIIGVY-CGLTTGFVPMYVGE VSPTALRGALGTLHQLGIV
Bovine RFIIGVY-CGLTTGFVPMYVGE VSPTELRGALGTLHQLGIV
Rabbit RFIIGVY-CGLTTGFVPMYVGE VSPTALRGALGTLHQLGIV
Sheep RFIIGVY-CGLTTGFVPMYVGE VSPTELRGALGTLHQLGIV
Chicken RFIIGLY-SGLTTGFVPMYVGE VSPTALRGALGTFHQLGIV
Drosophila RFIIGVN-CGLNTSLVPMYISE IAPLNLRGGLGTVNQLAVT
Baker's yeast NMTLNLWDCGGQDVFMENYFTK QKDHIFQ-----------M
Fission yeast NLVLNLWDCGGQEAFMENYLSA QRDHIFR-----------N
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
Topological domain
145 – 155
Cytoplasmic
Binding site
137 – 137
Helix
119 – 147
Literature citations
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;
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;
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.