CDKL5 Variant

   CSV explantation text

Variant ID: cm114
Systematic name: c.473G>C
Protein name: p.Arg158Pro
Alternate name(s): p.R158P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: likely pathogenic variant

First reference: Melani, F., Mei, D., Pisano, T., Savasta, S., Franzoni, E., Ferrari, A.R., Marini, C., Guerrini, R. (2011) CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Developmental Medicine & Child Neurology 53:354-360. Pubmed ID: 21309761

Comments: misnamed as p.Ala158Pro and c.473G>T; 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.473G>C p.Arg158Pro Not Rett syndrome - epileptic encephalopathy Male 21309761, Melani et al (2011) cp225

Displaying a total number of 1 proband entries matching this variant.