CDKL5 Variant

   CSV explantation text

Variant ID: cm228
Systematic name: c.125A>G
Protein name: p.Lys42Arg
Alternate name(s): p.K42R
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608429

First reference: Directly submitted

Comments: known kinase dead mutant from in vitro work (Bertani et al 2006 J Biol Chem 281:32048-32056)

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.125A>G p.Lys42Arg Not known Female Directly submitted cp465

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