Fig. 5.

Effect of the frameshift variant on PADI6 protein structure. a Alignment of the C-terminal residues of the wild-type PADI6 with those of the protein resulting from the T669Kfs*85 variant. b Model of human wild-type PADI6 in dimeric form. The amino acids that are colored are the sites were mutations occur. The model is represented as a cartoon, and the two chains are colored in light or dark gray, respectively. The 26-aa carboxy-terminal region of the protein that is substituted by a longer peptide in the frameshift variant T669Kfs*85 is colored in blue; the side chains of M477 (yellow), P632 (orange), and P694 (red) are shown as balls-and-sticks