Figure 1. RNF213 Alterations in MMD patients.

The 12 alterations identified in MMD patients in this study are shown in black above the schematic clustering at the C-terminus of RNF213 protein, with one alteration at the N-terminus. Three alterations identified in probands with familial TAAD are shown in grey above the schematic at the N-terminus of RNF213 protein. Alterations reported by other groups are shown in gray below the protein.^{6, 7} Known protein domains are indicated in black.