L68P (p.Leu68Pro) variant of KCNJ10 (P78508)
L68P (p.Leu68Pro) in KCNJ10 (P78508) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SESAMES. The record also includes published literature and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- UniProt VAR 072746
- Pathogenic
- in SESAMES
- Missense
- EBI: Pathogenic (in SESAMES)
- UniProt: Pathogenic (in SESAMES)
- Structural context available
- Cited in: Targeted next generation sequencing as a diagnostic tool in epileptic disorders. (PMID 22612257)
- Cited in: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by… (PMID 19289823)