CDKL5 Variant

Variant ID: cm21

Systematic name: c.1330C>T

Protein name: p.Arg444Cys

Alternate name(s): p.R444C

Mutation type: missense

Domain: not specified

Pathogenicity class: benign variant

dbSNP ID: rs61753977

First reference: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284

Comments: benign variation, found in normal male relative; in silico predictions: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = benign, AlignGVGD = pathogenic (C65)

Variant last updated on: 2018-06-26 10:15:43

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1330C>T p.Arg444Cys Rett syndrome - not certain Female 16015284, Evans et al (2005) cp32
c.1330C>T p.Arg444Cys Unaffected - unaffected family member Male 16015284, Evans et al (2005) cp33
c.1330C>T p.Arg444Cys Not Rett syndrome - epileptic encephalopathy Unknown 23064044, Raymond et al (2013) cp363
c.1330C>T p.Arg444Cys Unaffected - unaffected family member Female 23064044, Raymond et al (2013) cp364

Displaying a total number of 4 proband entries matching this variant.