CDKL5 Variant

Variant ID: cm64

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: 2014-03-13 05:45:19

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.