CDKL5 Variant



Variant ID: cm63

Systematic name: c.863C>T

Protein name: p.Thr288Ile

Alternate name(s): p.T288I

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267606713

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, not found in healthy mother of affected son; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = possibly 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.863C>T p.Thr288Ile Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835, Elia et al (2008) cp90

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