Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Arg333Trp (p.R333W)
(
ENST00000674765.1,
ENST00000426263.10 )
SLC2A1 p.Arg333Trp (p.R333W) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- GLUT1 deficiency syndrome
- Source Database
- DisGeNET
- Description
- The corresponding mutations in GLUT1 (R153C and R333W) are known to cause GLUT1 deficiency syndrome because arginine residues in this motif are reportedly important as the determinants of the membrane topology of human GLUT1.
- Pubmed
- 22132964
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.487328930546168
- Year of publication
- 2011
Drugs