Fig. 3: Structural representation of human POLE and POLD1 and ___location of the ED variants identified in the current study.

(a) 3D structure of POLE. (b) 3D structure of POLD1. Single-stranded DNA from the aligned bacteriophage T4 polymerase complex (PDB ID: 1NOY) is shown in yellow. Variants in the DNA binding pocket are highlighted in red.