CDKL5 (Cyclin-dependent kinase-like 5) variants and mutations

CDKL5 (also known as Cyclin-dependent kinase-like 5) is a human protein-coding gene encoding a cyclin-dependent kinase-like 5 protein. It phosphorylates neuronal substrates involved in synapse development, cytoskeletal organization, and signaling during early brain maturation. Loss-of-function variants cause CDKL5 deficiency disorder with very early epilepsy and severe developmental impairment. This analysis covers 1,181 CDKL5 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes developmental and epileptic encephalopathy, 2, CDKL5 disorder, and Angelman syndrome. Example CDKL5 variants include K2R, K2K, and I3F.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable CDKL5 variants

Examples include K2R, K2K, I3F, I3I, P4L, N5D, I6T, I6V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.