Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.R167H
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TPM1

NM_001018005.2:p.R167H

Associated Papers

The Twisting and Untwisting of Actin and Tropomyosin Filaments Are Involved in the Molecular Mechanisms of Muscle Contraction, and Their Disruption Can Result in Muscle Disorders.

Borovikov YS et al.

International Journal of Molecular Sciences, 2025

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.

Azimi A et al.

Esc Heart Failure, 2024

Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.

Moraczewska J

Journal of Muscle Research and Cell Motility, 2020

The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.

Borovikov YS et al.

International Journal of Molecular Sciences, 2018

The reason for a high Ca2+-sensitivity associated with Arg91Gly substitution in TPM2 gene is the abnormal behavior and high flexibility of tropomyosin during the ATPase cycle.

Borovikov YS et al.

Biochemical and Biophysical Research Communications, 2017

Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene.

Borovikov YS et al.

Scientific Reports, 2017

Molecular mechanisms of deregulation of the thin filament associated with the R167H and K168E substitutions in tropomyosin Tpm1.1.

Borovikov YS et al.

Archives of Biochemistry and Biophysics, 2017

Abnormal movement of tropomyosin and response of myosin heads and actin during the ATPase cycle caused by the Arg167His, Arg167Gly and Lys168Glu mutations in TPM1 gene.

Borovikov YS et al.

Archives of Biochemistry and Biophysics, 2016

Impaired tropomyosin-troponin interactions reduce activation of the actin thin filament.

Robaszkiewicz K et al.

Biochimica Et Biophysica Acta, 2015

Energy landscapes reveal the myopathic effects of tropomyosin mutations.

Orzechowski M et al.

Archives of Biochemistry and Biophysics, 2014

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M et al.

Human Mutation, 2014

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.

Marston S et al.

Human Molecular Genetics, 2013

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.

Ochala J et al.

The Journal of Physiology, 2008

Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.

Clarke NF

Advances in Experimental Medicine and Biology, 2008

A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.

Pénisson-Besnier I et al.

Neuromuscular Disorders : Nmd, 2007

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

Durling HJ et al.

Neuromuscular Disorders : Nmd, 2002

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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."