Fig. 2

Pathogenic missense mutations in CDKL5 map to the catalytic domain. Schematic of the human CDKL5 protein isoform predominant in the brain. Missense mutations classified as pathogenic by the ClinVar [70] database are mapped beneath the protein in black, while those categorized as likely pathogenic are noted above in gray. Abbreviations: NLS, putative nuclear localization signal; NES, putative nuclear export signal