Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.L64I
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TPM1

NM_001018005.2:p.L64I

Associated Papers

Functional outcomes of structural peculiarities of striated muscle tropomyosin.

Kopylova GV et al.

Journal of Muscle Research and Cell Motility, 2020

Myopathic mutations in the β-chain of tropomyosin differently affect the structural and functional properties of ββ- and αβ-dimers.

Bershitsky SY et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

HCM and DCM cardiomyopathy-linked α-tropomyosin mutations influence off-state stability and crossbridge interaction on thin filaments.

Farman GP et al.

Archives of Biochemistry and Biophysics, 2018

Functional role of the core gap in the middle part of tropomyosin.

Matyushenko AM et al.

The Febs Journal, 2018

Cooperativity of myosin interaction with thin filaments is enhanced by stabilizing substitutions in tropomyosin.

Shchepkin DV et al.

Journal of Muscle Research and Cell Motility, 2017

Effect of Cardiomyopathic Mutations in Tropomyosin on Calcium Regulation of the Actin-Myosin Interaction in Skeletal Muscle.

Kopylova GV et al.

Bulletin of Experimental Biology and Medicine, 2016

Structural and functional effects of two stabilizing substitutions, D137L and G126R, in the middle part of α-tropomyosin molecule.

Matyushenko AM et al.

The Febs Journal, 2014

Conserved Asp-137 imparts flexibility to tropomyosin and affects function.

Sumida JP et al.

The Journal of Biological Chemistry, 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."