CDKL5 Variant

Variant ID: cm194

Systematic name: c.578A>G

Protein name: p.Asp193Gly

Alternate name(s): p.D193G

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs267608500

First reference: Mirzaa, G.M., Paciorkowski, A.R., Marsh, E.D., Berry-Kravis, E.M., Medne, L., Grix, A., Wirrell, E.C., Powell, B.R., Nickels, K.C., Burton, B., Paras, A., Kim, K., Chung, W., Dobyns, W.B., Das, S. (2013) CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatric Neurology 48:367-377. Pubmed ID: 23583054

Comments: mutation also found in affected half-siblings, likely maternal germline mosaicism; mutation not seen in asymptomatic mother; highly conserved amino acid, in catalytic domain; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65)

Variant last updated on: 2014-03-13 05:52:46

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.578A>G p.Asp193Gly Not Rett syndrome - early-onset epilepsy Male 23583054, Mirzaa et al (2013) cp409
c.578A>G p.Asp193Gly Not Rett syndrome - early-onset epilepsy Female 23583054, Mirzaa et al (2013) cp410

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