Fig. 3

KMT2B missense variants distribution. The diagram on the top illustrates the KMT2B’s tolerance to missense changes landscape according to MetaDome web server. The protein structure is depicted on the bottom, along with the missense variants analyzed in the present work. Purple boxes indicate protein domains. Green bars depict mutated residues. Known pathogenic variants are written in black [9]; variants classified as disease-causing in this work (red) and those classified as benign (blue) by the identified episignature are also shown