Pathogenic MYBPC3 missense variants alter protein-protein interactions within the sarcomere
Andrea D. Thompson, Chelsea Pankiewicz, Lucy Plenge, Ulla Lilienthal, Sruthi Kotaru, Mathav Vignesh, Trisha Phan, Christopher McAllister, Jaime M. Yob, Michael P. Morley, Jodie Ingles, Sophie Hespe, Adam S. Helms, David Ginsburg, S On Behalf Of The Chlovis Study Investigators, Sharlene M. Day
This study identifies pathogenic MYBPC3 missense variants in HCM patients and shows they disrupt protein interactions and alter proximity to thin-filament proteins.
bioRxiv · Jul 21, 2026 · PreprintCell Biology