S294P (p.Ser294Pro) variant of SLC2A1 (P11166)
S294P (p.Ser294Pro) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GLUT1 deficiency syndrome 1, autosomal recessive. The record also includes published literature and structural context.
S294P (p.Ser294Pro) variant details
- p.Ser294Pro
- rs2524990221
- ClinGen CA339956928
- ClinVar RCV003518722
- UniProt VAR 065784
- Pathogenic
- GLUT1 deficiency syndrome 1, autosomal recessive
- Missense
- ClinVar: Pathogenic (GLUT1 deficiency syndrome 1, autosomal recessive)
- EBI: Pathogenic (in GLUT1DS2)
- UniProt: Pathogenic (in GLUT1DS2)
- Structural context available
- Cited in: Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. (PMID 20830593)
- Cited in: GLUT-1 deficiency without epilepsy--an exceptional case. (PMID 14605501)