Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.E180G
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TPM2

NM_003289.4:p.E180G

Associated Papers

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

The Effect of Tropomyosin Mutations on Actin-Tropomyosin Binding: In Search of Lost Time.

Lehman W et al.

Biophysical Journal, 2019

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

Abstracts of EMC2017.

Unknown Author

Journal of Muscle Research and Cell Motility, 2017

Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.

Zheng W et al.

Journal of Muscle Research and Cell Motility, 2016

Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Marston SB

Frontiers in Physiology, 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

Tropomodulins and tropomyosins: working as a team.

Colpan M et al.

Journal of Muscle Research and Cell Motility, 2013

Polymorphism in tropomyosin structure and function.

Janco M et al.

Journal of Muscle Research and Cell Motility, 2013

α-Tropomyosin with a D175N or E180G mutation in only one chain differs from tropomyosin with mutations in both chains.

Janco M et al.

Biochemistry, 2012

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

Ochala J et al.

Human Molecular Genetics, 2012

Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin.

Mathur MC et al.

Biochemical and Biophysical Research Communications, 2011

Functional effects of a tropomyosin mutation linked to FHC contribute to maladaptation during acidosis.

Sheehan KA et al.

Journal of Molecular and Cellular Cardiology, 2011

An internal domain of beta-tropomyosin increases myofilament Ca(2+) sensitivity.

Jagatheesan G et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2009

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

Ochala J et al.

The Journal of Physiology, 2008

Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity.

Rajan S et al.

Circulation Research, 2007

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.

Robinson P et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007

Role of tropomyosin isoforms in the calcium sensitivity of striated muscle thin filaments.

Boussouf SE et al.

Journal of Muscle Research and Cell Motility, 2007

Effects of two familial hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on the thermal unfolding of actin-bound tropomyosin.

Kremneva E et al.

Biophysical Journal, 2004

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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."