E1221K (p.Glu1221Lys) variant of SCN1A (Nav1.1)
E1221K (p.Glu1221Lys) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Generalized epilepsy with febrile seizures plus, type 2; Early-infantile DEE. The record also includes published literature and structural context.
E1221K (p.Glu1221Lys) variant details
- p.Glu1221Lys
- UniProt VAR 073539
- Pathogenic
- Generalized epilepsy with febrile seizures plus, type 2; Early-infantile DEE
- Missense
- ClinVar: Pathogenic (Generalized epilepsy with febrile seizures plus, type 2; Early-i)
- EBI: Pathogenic (in DRVT)
- UniProt: Pathogenic (in DRVT)
- Structural context available
- Cited in: Genotype-phenotype associations in SCN1A-related epilepsies. (PMID 21248271)
- Cited in: De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (PMID 11359211)