RNF213 and multiminicore myopathy: To obtain a comprehensive overview how MMD mutations affect RNF213 function, we mapped known variants on the cryo-EM structure, color coded by their pathology scores from Combined Annotation Dependent Depletion analysis (CADD Kircher et al., 2014; Moteki et al., 2015; Figure 4d, Figure 4—figure supplement 1).