CDKL5 Variant



Variant ID: cm44

Systematic name: c.119C>T

Protein name: p.Ala40Val

Alternate name(s): p.A40V

Mutation type: missense

Domain: ATP binding region

Pathogenicity class: pathogenic variant

dbSNP ID: rs122460159

First reference: Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, J., Girard, B., N'Guyen Morel, M.A., Gitiaux, C., Lazaro, L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 45:172-178. Pubmed ID: 17993579

Comments: in vitro study shows mislocalisation of CDKL5 in the cytoplasm

Variant last updated on: 2014-03-13 05:43:05

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.119C>T p.Ala40Val Rett syndrome - early seizure Female 17993579, Rosas-Vargas et al (2008) cp57
c.119C>T p.Ala40Val Not Rett syndrome - severe epileptic encephalopathy with infantile spasms Female 17993579, Rosas-Vargas et al (2008) cp58
c.119C>T p.Ala40Val Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp199
c.119C>T p.Ala40Val Not Rett syndrome - ISSX Female 22678952, Bahi-Buisson et al (2012) cp452
c.119C>T p.Ala40Val Not Rett syndrome - epileptic encephalopathy Female 22678952, Bahi-Buisson et al (2012) cp453

Displaying a total number of 5 proband entries matching this variant.