Fig 1.

A. Mutations present in the patient samples. Mutations of patients that were included in this study. Myosin heavy chain gene (MYH7) mutations are depicted in blue squares of which two mutations (R719W and R403Q) were present in both stage II and IV (end-stage) HCM patient groups. Myosin-binding protein-C gene (MYBPC3) mutations are depicted in the yellow squares of which one mutation (E258K) was present in both HCM patient groups. The three Dutch founder mutations are depicted in the dotted squares. The troponin T gene (TNNT2) mutation is depicted in the green square and was only present in the end-stage patient group. Color tone indicates the number of patients carrying the specific mutation, with the darkest tone representing most patients (patient details are given in Table 1). B. Mutation location. Schematic of 3 main HCM sarcomere proteins: myosin heavy chain in green (Myosin), cardiac myosin-binding protein-C in purple (cMyBP-C) and cardiac troponin T in orange (cTnT). The location of the mutations is indicated with the blue circles (M). The letters N and C stand for the N-terminus and C-terminus respectively. The numbers indicate the amino acids of the sarcomere proteins.