CDKL5 Variant

Variant ID: cm62
Systematic name: c.872G>A
Protein name: p.Cys291Tyr
Alternate name(s): p.C291Y
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: variant of uncertain significance
dbSNP ID: rs267606714

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: conserved residue; 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.872G>A p.Cys291Tyr Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835, Elia et al (2008) cp89
c.872G>A p.Cys291Tyr Not Rett syndrome Female 25657822, Fehr S et al (2015) cp577

Displaying a total number of 2 proband entries matching this variant.