CDKL5 Variant

   CSV explantation text

Variant ID: cm174
Systematic name: c.91A>G
Protein name: p.Arg31Gly
Alternate name(s): p.R31G
Mutation type: missense
Domain: ATP binding region
Pathogenicity class: pathogenic variant

First reference: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Comments: de novo mutation; 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.91A>G p.Arg31Gly Not Rett syndrome - early-onset seizures Female 23064044, Raymond et al (2013) cp359

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