The mutations were confirmed with Sanger sequencing and indicated with red arrows. CCDC147 includes two coiled coil regions: 106–595 AA, and 642–839 AA. DBH consist of five domains: TM (transmembrane; 20–37 AA), DOMON (dopamine beta-monooxygenase N-terminal; 56–172 AA), Cu2_N (Copper type II, N-terminal; 213–341 AA), Cu2_C (Copper type II, C-terminal; 360–524 AA), and DBM (DB-monooxygenase motif IX; 552–572 AA).