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Article

The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin.

Science advances - 1 Apr 2020

Sarkar Saswata S, Trivedi Darshan V, Morck Makenna M, Adhikari Arjun S, Pasha Shaik N, Ruppel Kathleen M, Spudich James A

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) mutations in β-cardiac myosin and myosin binding protein-C (MyBP-C) lead to hypercontractility of the heart, an early hallmark of HCM. We show that hypercontractility caused by the HCM-causing mutation R663H cannot be explained by changes in fundamental myosin contractile parameters, much like the HCM-causing mutation R403Q. Using enzymatic assays with purified human β-cardiac...

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Identifiers

PMID: 32284968
DOI: 10.1126/sciadv.aax0069
PMCID: PMC7124958

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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