Why the study?
Mutations in MYBPC3 are major contributors to HCM, but the structural and functional effects of specific missense mutations remained to be investigated.
Population
Recombinant discrete C0–C2 domains of wild-type and mutant cMyBP-C proteins
Comparison
cMyBP-CS236G and cMyBP-CE334K mutants vs wild-type cMyBP-CWT
Design
In vitro and in silico experimental study
Authors
Loading...
p.E334K shows variant-specific detrimental effects; leaves open clinical pathogenicity and therapeutic translation pending validation.
The p.E334K mutation in cMyBP-C causes increased protein rigidity and reduced actin-binding affinity, revealing a distinct pathogenic mechanism for hypertrophic cardiomyopathy beyond haploinsufficiency.
Thanassoulas et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: