CDKL5 Variant
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.