CDKL5 Variant

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: 2015-02-26 03:22:52

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.