Fig. 5

Structural and functional consequences of 178 HCM mutations. a The chart pie represents the proportion of mutations belonging to six classes depending on their effect on the structure, the function and the stability of the IHM. These six classes are: mutations destabilizing the IHM (green); mutations destabilizing the IHM and the motor function (yellow); mutations destabilizing the PPS conformation and the IHM (orange); mutations that alter the protein function (blue); mutations that alter the protein function and the protein stability (purple); and mutations that mildly affect protein function or stability (black). b Positions of the HCM mutations on the PPS structure of the β-cardiac myosin (PDB code: 5N69). Mutations are represented as balls colored depending on their predicted consequences, following the color code defined in a. c Cartoon representation of the PPS structure of the β-cardiac myosin with all the subdomains colored. TR transducer, ELC essential light chain