L = located in loop, H = located in helix, E = located in sheet, L-H = Crossing loop and helix, * = identified but with a low reliability score.ID1: brother from family 1, ID 3: daughter from family 2
RNF213/Mysterin has been identified as a susceptibility gene for moyamoya disease, a cerebrovascular disease characterized by occlusive lesions in the circle of Willis. The p.R4810K (rs112735431) vari
