CDKL5 Variant



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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: 2014-03-13 05:45:19

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

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