CDKL5 Variant
Systematic name: c.533G>C
Protein name: p.Arg178Pro
Alternate name(s): p.R178P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs267606715
First reference: Elia, M., Falco, M., Ferri, R., Spalletta, A., Bottitta, M., Calabrese, G., Carotenuto, M., Musumeci, S.A., Lo Giudice, M., Fichera, M. (2008) CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology 71:997-999. Pubmed ID: 18809835
Comments: highly conserved residue, one male patient (healthy mother not carrier), de novo in second patient (female); In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)
Variant last updated on: 2018-06-05 14:40:30
Matching entries in the proband database
cDNA name | Protein name | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|
c.533G>C | p.Arg178Pro | Not Rett syndrome - Severe encephalopathy and early-onset seizures | Male | 18809835, Elia et al (2008) | cp91 |
c.533G>C | p.Arg178Pro | Not Rett syndrome - early-onset encephalopathy | Female | 19793311, Nemos et al (2009) | cp97 |
Displaying a total number of 2 proband entries matching this variant.