K35E (p.Lys35Glu) variant of MECP2 (Methyl-CpG-binding protein 2)
K35E (p.Lys35Glu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Severe neonatal-onset encephalopathy with microcephaly. The record also includes experimental measurements, published literature, and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- rs2522112759
- ClinGen CA415178434
- ClinVar RCV003063909
- Benign
- Severe neonatal-onset encephalopathy with microcephaly
- Missense
- ClinVar: Benign (Severe neonatal-onset encephalopathy with microcephaly)
- EBI: Benign
- UniProt: Benign
- Structural context available
- MECP2 Methyl-CpG DNA binding domain domainome 1.0: score -0.153
- Cited in: MECP2 Disorders. (PMID 20301670)