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:
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-CGLTTGFVPMYVG EVSPTALRGALGTLHQLGIVV
Mouse RFIIGVY-CGLTTGFVPMYVG EVSPTALRGALGTLHQLGIV
Rat RFIIGVY-CGLTTGFVPMYVG EVSPTALRGALGTLHQLGIV
Pig RFIIGVY-CGLTTGFVPMYVG EVSPTALRGALGTLHQLGIV
Bovine RFIIGVY-CGLTTGFVPMYVG EVSPTELRGALGTLHQLGIV
Rabbit RFIIGVY-CGLTTGFVPMYVG EVSPTALRGALGTLHQLGIV
Sheep RFIIGVY-CGLTTGFVPMYVG EVSPTELRGALGTLHQLGIV
Chicken RFIIGLY-SGLTTGFVPMYVG EVSPTALRGALGTFHQLGIV
Drosophila RFIIGVN-CGLNTSLVPMYIS EIAPLNLRGGLGTVNQLAVT
Baker's yeast NMTLNLWDCGGQDVFMENYFT KQKDHIFQ-----------M
Fission yeast NLVLNLWDCGGQEAFMENYLS AQRDHIFR-----------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
1 – 492 Solute carrier family 2, facilitated glucose transporter member 1
145 – 155 Cytoplasmic
137 – 137 Cytochalasin b inhibitor
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;
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.