N34Y (p.Asn34Tyr) variant of SLC2A1 (P11166)
N34Y (p.Asn34Tyr) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in GLUT1DS1. The record also includes published literature and structural context.
N34Y (p.Asn34Tyr) variant details
- p.Asn34Tyr
- UniProt VAR 065206
- Pathogenic
- in GLUT1DS1
- Missense
- EBI: Pathogenic (in GLUT1DS1)
- UniProt: Pathogenic (in GLUT1DS1)
- Structural context available
- Cited in: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. (PMID 20129935)
- Cited in: Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. (PMID 10227690)