biostudies-literatureSchwabe FVDeutsche ForschungsgemeinschaftGerman Aerospace Center11949https://www.ebi.ac.uk/biostudies/studies/S-EPMC8584774biostudies-literatureUnknown22(21)Mutations in the gene encoding cardiac myosin-binding protein-C (MyBPC), a thick filament assembly protein that stabilizes sarcomeric structure and regulates cardiac function, are a common cause for the development of hypertrophic cardiomyopathy. About 10% of carriers of the Δ25bp variant of <i>MYBPC3</i>, which is common in individuals from South Asia, are also carriers of the D389V variant on the same allele. Compared with noncarriers and those with <i>MYBPC3</i>^{Δ<i>25bp</i>} alone, indicators for the development of hypertrophic cardiomyopathy occur with increased frequency in <i>MYBPC3</i>^{Δ<i>25bp/D389V</i>} carriers. Residue D389 lies in the IgI-like C2 domain that is part of the N-terminal region of MyBPC. To probe the effects of mutation D389V on structure, thermoInternational journal of molecular sciencesAssessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation <i>MYBPC3</i>^{Δ<i>25bp/D389V</i>}.PMC8584774MA1081/23-101GM1922BMA1081/23–1Peter EKSchwabe FVTaft MHManstein DJfalseAssessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation <i>MYBPC3</i>^{Δ<i>25bp/D389V</i>}.Mutations in the gene encoding cardiac myosin-binding protein-C (MyBPC), a thick filament assembly protein that stabilizes sarcomeric structure and regulates cardiac function, are a common cause for the development of hypertrophic cardiomyopathy. About 10% of carriers of the Δ25bp variant of <i>MYBPC3</i>, which is common in individuals from South Asia, are also carriers of the D389V variant on the same allele. Compared with noncarriers and those with <i>MYBPC3</i>^{Δ<i>25bp</i>} alone, indicators for the development of hypertrophic cardiomyopathy occur with increased frequency in <i>MYBPC3</i>^{Δ<i>25bp/D389V</i>} carriers. Residue D389 lies in the IgI-like C2 domain that is part of the N-terminal region of MyBPC. To probe the effects of mutation D389V on structure, thermo2021-01-01T00:00:00Z2021 Nov2026-04-08T07:12:45.401Z2022-02-11T14:58:11.371ZS-EPMC85847743476938110.3390/ijms222111949