Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R712L
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MYH7

NM_000257.4:p.R712L

Associated Papers

India-specific cardiogenetic aspects: focus on Cardiomyopathies and Inherited Arrhythmia Syndromes.

Chockalingam P et al.

Indian Pacing and Electrophysiology Journal, 2026

A myosin hypertrophic cardiomyopathy mutation disrupts the super-relaxed state and boosts contractility by enhanced actin attachment.

Cail RC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human β-cardiac myosin allosterically.

Nandwani N et al.

Nature Communications, 2025

Mavacamten inhibits myosin activity by stabilising the myosin interacting-heads motif and stalling motor force generation.

McMillan SN et al.

Biorxiv : the Preprint Server for Biology, 2025

Myosin-Catalyzed ATP Hydrolysis in the Presence of Disease-Causing Mutations: Mavacamten as a Way to Repair Mechanism.

Chakraborti A et al.

The Journal of Physical Chemistry. B, 2024

Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human beta-cardiac myosin allosterically.

Nandwani N et al.

Biorxiv : the Preprint Server for Biology, 2024

Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.

Liu C et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Dilated cardiomyopathy mutation in beta-cardiac myosin enhances actin activation of the power stroke and phosphate release.

Bodt SML et al.

Biorxiv : the Preprint Server for Biology, 2023

Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.

Koshy L et al.

The Indian Journal of Medical Research, 2023

Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.

Liu C et al.

Biorxiv : the Preprint Server for Biology, 2023

Comparative study of binding pocket structure and dynamics in cardiac and skeletal myosin.

Antonovic AK et al.

Biophysical Journal, 2023

36451546 (PubMed )
Supplement: mmc2.pdf

Hypertrophic cardiomyopathy: an up-to-date snapshot of the clinical drug development pipeline.

Tamargo J et al.

Expert Opinion on Investigational Drugs, 2022

Cardiac myosin contraction and mechanotransduction in health and disease.

Barrick SK et al.

The Journal of Biological Chemistry, 2021

Myosin with hypertrophic cardiac mutation R712L has a decreased working stroke which is rescued by omecamtiv mecarbil.

Snoberger A et al.

Elife, 2021

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

Zhao P et al.

Cardiology in the Young, 2017

Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants.

Kraker J et al.

Frontiers in Physiology, 2016

A Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.

Kronert WA et al.

The Journal of Biological Chemistry, 2015

Structural basis for drug-induced allosteric changes to human β-cardiac myosin motor activity.

Winkelmann DA et al.

Nature Communications, 2015

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D et al.

Heart (british Cardiac Society), 2015

[Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree].

Zhao X et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2014

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

Van Driest SL et al.

Journal of the American College of Cardiology, 2004

A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.

Sakthivel S et al.

Human Mutation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."