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: 2018-06-05 14:40:30
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.