Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.L352P
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MYBPC3

NM_000256.3:p.L352P

Associated Papers

MYBPC3 N-terminal missense mutations linked to hypertrophic cardiomyopathy strengthen actin binding and enhance residue mobility.

Kanassatega RS et al.

The Journal of Biological Chemistry, 2025

Myosin-binding protein C slows cardiac myofibril relaxation kinetics.

Dvornikov AV et al.

The Journal of Physiology, 2025

The L348P point mutation in cardiac myosin binding protein-C alters transient responses to stretch, slows cardiac relaxation, and is embryonic lethal in homozygous CRISPR gene-edited mice.

Sadler RL et al.

Journal of Molecular and Cellular Cardiology, 2025

Disparate Molecular Properties of Two Hypertrophic Cardiomyopathy-Associated cMyBP-C Mutants Reveal Distinct Pathogenic Mechanisms Beyond Haploinsufficiency.

Thanassoulas A et al.

Biomedicines, 2025

Mavacamten Inhibits the Effect of the N-Terminal Fragment of Cardiac Myosin-Binding Protein C with the L352P Mutation on the Actin-Myosin Interaction at Low Calcium Concentrations.

Kochurova AM et al.

Biochemistry. Biokhimiia, 2025

The N-Terminal Mutations of cMyBP-C Affect Calcium Regulation, Kinetics, and Force of Muscle Contraction.

Nabiev SR et al.

International Journal of Molecular Sciences, 2024

The D75N and P161S Mutations in the C0-C2 Fragment of cMyBP-C Associated with Hypertrophic Cardiomyopathy Disturb the Thin Filament Activation, Nucleotide Exchange in Myosin, and Actin-Myosin Interaction.

Kochurova AM et al.

International Journal of Molecular Sciences, 2024

Cardiac myosin-binding protein C N-terminal interactions with myosin and actin filaments: Opposite effects of phosphorylation and M-domain mutations.

Wong FL et al.

Journal of Molecular and Cellular Cardiology, 2024

Cryo-Electron Microscopy Reveals Cardiac Myosin Binding Protein-C M-Domain Interactions with the Thin Filament.

Risi CM et al.

Journal of Molecular Biology, 2022

A high-throughput fluorescence lifetime-based assay to detect binding of myosin-binding protein C to F-actin.

Bunch TA et al.

The Journal of General Physiology, 2021

Point mutations in the tri-helix bundle of the M-domain of cardiac myosin binding protein-C influence systolic duration and delay cardiac relaxation.

van Dijk SJ et al.

Journal of Molecular and Cellular Cardiology, 2018

The cMyBP-C HCM variant L348P enhances thin filament activation through an increased shift in tropomyosin position.

Mun JY et al.

Journal of Molecular and Cellular Cardiology, 2016

The motif of human cardiac myosin-binding protein C is required for its Ca2+-dependent interaction with calmodulin.

Lu Y et al.

The Journal of Biological Chemistry, 2012

Cardiac myosin binding protein C: its role in physiology and disease.

Flashman E et al.

Circulation Research, 2004

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Richard P et al.

Circulation, 2003

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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."