Variant position: 126 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 SAVLMGFSKLGKSFEMLILG RFIIGVY-CGLTTGFVPMYVGE
Mouse AAVLMGFSKLGKSFEMLILG RFIIGVY-CGLTTGFVPMYVG
Rat SAVLMGFSKLGKSFEMLILG RFIIGVY-CGLTTGFVPMYVG
Pig SAVLMGFSKLGKSFEMLILG RFIIGVY-CGLTTGFVPMYVG
Bovine SAVLMGFSKLGKSFEMLILG RFIIGVY-CGLTTGFVPMYVG
Rabbit SAVLMGFSKLAKSFEMLILG RFIIGVY-CGLTTGFVPMYVG
Sheep SAVLMGFSKLGKSFEMLILG RFIIGVY-CGLTTGFVPMYVG
Chicken AAVLMGFSKMALSFEMLILG RFIIGLY-SGLTTGFVPMYVG
Drosophila GACLMGFTKVSHSYEMLFLG RFIIGVN-CGLNTSLVPMYIS
Baker's yeast TRRLGATIDVEHSH-LRFLG NMTLNLWDCGGQDVFMENYFT
Fission yeast TRRLGATIDIEHSH-VRFLG NLVLNLWDCGGQEAFMENYLS
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
121 – 144 Helical; Name=4
137 – 137 Cytochalasin b inhibitor
119 – 145
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;
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.