Annotation Detail
Information
- Associated Genes
- SLC2A1
- Associated Variants
-
SLC2A1 p.Thr295Met (p.T295M)
(
ENST00000426263.10,
ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Ser66Phe (p.S66F) ( ENST00000674765.1, ENST00000426263.10 )
SLC2A1 p.Thr295Met (p.T295M) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Arg126Cys (p.R126C) ( ENST00000426263.10, ENST00000674765.1 )
SLC2A1 p.Ser66Phe (p.S66F) ( ENST00000426263.10, ENST00000674765.1 ) - Associated Disease
- GLUT1 deficiency syndrome
- Source Database
- DisGeNET
- Description
- In this study, the protein products of the Glut1DS-associated GLUT1 missense mutations, S66F, R126C, and T295M, were characterized using the Glut1-green fluorescent protein (GFP) fusion expressed in CHO cells.
- Pubmed
- 17052934
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.487328930546168
- Year of publication
- 2007
Drugs