CDKL5 Variant



Variant ID: cm8

Systematic name: c.525A>T

Protein name: p.Arg175Ser

Alternate name(s): p.R175S

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

dbSNP ID: rs61749700

First reference: Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154. Pubmed ID: 15499549

Comments: in vitro study (Ricciardi et al 2009) shows abnormal nuclear speckles; In silico prediction: SIFT = deleterious, MutationTaster = disease-causing, PolyPhen2 = probably damaging, AlignGVGD = benign (C0)

Variant last updated on: 2014-03-13 05:38:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.525A>T p.Arg175Ser Rett syndrome - not certain Female 15499549, Tao et al (2004) cp9
c.525A>T p.Arg175Ser Rett syndrome - not certain Female 15499549, Tao et al (2004) cp10
c.525A>T p.Arg175Ser Rett syndrome - Hanefeld Female 22430159, Pini et al (2012) cp341

Displaying a total number of 3 proband entries matching this variant.