Figure 4.

Location of two myosin binding protein C1 (MYBPC1) mutations in two patients with DA1. The W236R mutation is located within the MyBP-C unique motif between the C1 and C2 immunoglobulin domains. This region has been shown to interact with myosin S2 (42). The Y856H mutation is within the C8 repeat, a region known to mediate interactions with LMM portion of myosin (45,46) and titin (47). Two MYBPC3 mutations found in patients with hypertrophic cardiomyopathy, R326Q and E334K, corresponding to MYBPC1 K240Q and E248K, are shown in italics. Immunoglobulin domains are shown as circles and fibronectin type III domains as squares.