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. 2023 Nov 30;300(1):105511. doi: 10.1016/j.jbc.2023.105511

Figure 8.

Figure 8

Proposed mechanisms for how different missense mutations in cMyBP-C lead to HCM. Depending on their position along the molecule, missense mutations in MyBP-C can either shift the balance of interaction with thin filaments and myosin (e.g., E542Q; G596R), lead to protein mislocalization and aggregation (N755K), or decrease protein stability (R820Q in this study; W792R in Ref. (26), indicated with an asterisk). cMyBP-C, cardiac isoform of myosin binding protein-C; HCM, hypertrophic cardiomyopathy.