Figure 2.

CdLS HDAC8 mutations. A total of 23 different missense mutants have been identified to date in children diagnosed with Cornelia de Lange Syndrome spectrum disorders. Mutations (red) are mapped onto the crystal structure of the Y306F HDAC8‐substrate complex (PDB 2V5W). The active site Zn²⁺ ion is a dark blue sphere, and 2 K⁺ ions that regulate HDAC8 activity are orange spheres. The bound substrate is a stick‐figure color‐coded as follows: C = gray, N = blue, O = red.