Figure 2. Scheme of FYCO1.
Black arrows denote sites of missense variants identified in patients with sIBM. Red arrows denote mutations previously identified in patients with congenital cataracts. Domains include RUN (GTPase interacting motif); Coiled Coil (dimerization motif); FYVE (phospholipid binding region); LIR (LC3 interacting region); and GOLD (golgi dynamics domain).