CDKL5 Variant



Variant ID: cm94

Systematic name: c.587C>T

Protein name: p.Ser196Leu

Alternate name(s): p.S196L

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

dbSNP ID: rs267608501

First reference: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747

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

Variant last updated on: 2014-03-13 05:45:19

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.587C>T p.Ser196Leu Not Rett syndrome - epileptic encephalopathy Female 20397747, White et al (2010) cp143
c.587C>T p.Ser196Leu Not Rett syndrome - epileptic encephalopathy Female 22264704, Moseley et al (2012) cp498

Displaying a total number of 2 proband entries matching this variant.