Figure 5.

RNF213 Rare Functional Variants Exclusively Found in IA- and MMD-Affected Individuals

Adapted from Cecchi et al.⁵⁶ and Koizumi et al.⁶⁶ 14 variants found in the current study are marked in red, variants reported in Moteki et al.⁶⁴ are marked in blue, MMD variants reported in Cecchi et al. are marked in black, and MMD variants found in other studies are marked in gray. The results show that FC IA-affected individuals harbor more deleterious mutations in the AAA+ domains than other populations do.