CDKL5 Variant

   CSV explantation text

Variant ID: cm132
Systematic name: c.533G>A
Protein name: p.Arg178Gln
Alternate name(s): p.R178Q
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
dbSNP ID: rs267606715

First reference: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923

Comments: conserved residue, other missense at same position suspected pathogenic; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

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.533G>A p.Arg178Gln Not Rett syndrome - epileptic encephalopathy Male 21770923, Liang et al (2011) cp288
c.533G>A p.Arg178Gln Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187, Carvill et al (2013) cp427
c.533G>A p.Arg178Gln Not Rett syndrome - infantile spasms Male 24564546, Zhao et al (2014) cp449
c.533G>A p.Arg178Gln Not Rett syndrome - epileptic encephalopathy Female 22678952, Bahi-Buisson et al (2012) cp454

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