Fig. 4.

Protein domain structure of C2CD3 highlighting variants identified in this study and in the literature. The C2CDN-C2 (gray circle) and PKC-C2 domains (black circles) are shown on the protein topology for NM_001286577.1. The location of each of the identified variants identified in this study is highlighted on the top of the topology (Family 1 is in a white box, Family 2 is in a gray box, Family 3 is in a black box). Previously reported variants in the literature are shown on the bottom of the topology. #The precise protein product resulting from the c.4951+1G>T has not been established, so the location of this variant in the protein structure is putative. ^†[5], ^‡[6], ^¥[7], ^˄[8]