Figure 2.

Schematic of CDK13 (UniProtKB Accession Q14004.1), demonstrating the position of the missense mutations and splice-site variant reported in patients. (B) Missense and loss-of-function variants in CDK13 reported on Exome Aggregation Consortium Server (figure courtesy of DECIPHER: decipher.sanger.ac.uk/). The missense variants are located below the polypeptide, whereas the loss of function variants are indicated as red vertical bars below the missense variants. The figure clearly shows the reduced number of missense variants reported in the protein kinase (Pkinase) domain of CDK13.