K305N (p.Lys305Asn) variant of MECP2 (Methyl-CpG-binding protein 2)
K305N (p.Lys305Asn) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Focal epilepsy; Rett syndrome. The record also includes published literature and structural context.
K305N (p.Lys305Asn) variant details
- p.Lys305Asn
- rs1057519543
- ClinGen CA16044336
- ClinVar RCV000416950
- ClinVar RCV005053944
- Likely pathogenic
- Focal epilepsy; Rett syndrome
- Missense
- ClinVar: Likely pathogenic (Focal epilepsy; Rett syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)
- Cited in: MECP2 Disorders. (PMID 20301670)