CDKL5 Variant

   CSV explantation text

Variant ID: cm45
Systematic name: c.659T>C
Protein name: p.Leu220Pro
Alternate name(s): p.L220P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs267608511

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; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = pathogenic (C65)

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.659T>C p.Leu220Pro Not Rett syndrome - severe epileptic encephalopathy with infantile spasms Female 17993579, Rosas-Vargas et al (2008) cp59

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