Fig. 1

a CDK13 Domain Composition. Proline-rich (PRM), alanine-rich (AR), Arginine/serine-rich (RS), and serine-rich (SR) domains are indicated. The protein kinase domains span amino acids 697–1029. Numbers below the schematic represent amino acid positions of various domains. Domain data adapted from [10]. b Summary of 29 total pathogenic variants including this report. All variants are predicted to impact the protein kinase domain with additional clustering in the ATP-binding and magnesium-binding sites. More than half (15/29) of the variants perturb the wild-type asparagine residue at amino acid position 842. Asterisk indicates variants contributed by this study: (1) variants published in [1]; (2) variants published in [2]. Variants present in more than one individual per publication are listed as ‘x #’