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Article

The HCM-linked W792R mutation in cardiac myosin-binding protein C reduces C6 FnIII domain stability.

American journal of physiology. Heart and circulatory physiology - 1 Jun 2018

Smelter Dan F, de Lange Willem J, Cai Wenxuan, Ge Ying, Ralphe J Carter

Abstract excerpt

Cardiac myosin-binding protein C (cMyBP-C) is a functional sarcomeric protein that regulates contractility in response to contractile demand, and many mutations in cMyBP-C lead to hypertrophic cardiomyopathy (HCM). To gain insight into the effects of disease-causing cMyBP-C missense mutations on contractile function, we expressed the pathogenic W792R mutation (substitution of a highly conserved tryptophan residue...

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Identifiers

PMID: 29451820
DOI: 10.1152/ajpheart.00686.2017
PMCID: PMC6032085

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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