Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.R91G
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TPM1

NM_001018005.2:p.R91G

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

Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7.

Borovikov YS et al.

International Journal of Molecular Sciences, 2021

Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.

Matyushenko AM et al.

Biochemistry. Biokhimiia, 2020

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

Aberrant movement of β-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle.

Borovikov YS et al.

Archives of Biochemistry and Biophysics, 2015

Energy landscapes reveal the myopathic effects of tropomyosin mutations.

Orzechowski M et al.

Archives of Biochemistry and Biophysics, 2014

Myopathies associated with β-tropomyosin mutations.

Tajsharghi H et al.

Neuromuscular Disorders : Nmd, 2012

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

Ochala J et al.

The Journal of Physiology, 2008

Thick and thin filament gene mutations in striated muscle diseases.

Tajsharghi H

International Journal of Molecular Sciences, 2008

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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."