3.4.24.B18 | medicine |
all of the autosomal dominant mutations, such as N432T and R468C, localize to intersubunit interfaces of the hexamer, including the lateral interface between adjacent ATPase subunits where the nucleotide binding pocket is formed, the tightly interconnected helices that dominate the lateral interface of the protease domain, and the central protrusion of the AFG3L2 protease ring that is involved in substrate transfer to the protease domains |
754718 |