Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.A156T
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TPM3

NM_152263.4:p.A156T

Associated Papers

Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.

Lambert MR et al.

Skeletal Muscle, 2023

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Xu H et al.

Genes & Diseases, 2021

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

Deviations in conformational rearrangements of thin filaments and myosin caused by the Ala155Thr substitution in hydrophobic core of tropomyosin.

Karpicheva OE et al.

Biochimica Et Biophysica Acta. Proteins and Proteomics, 2017

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M et al.

Human Molecular Genetics, 2015

Mutations in TPM2 and congenital fibre type disproportion.

Clarke NF et al.

Neuromuscular Disorders : Nmd, 2012

Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.

Robaszkiewicz K et al.

Biochimica Et Biophysica Acta, 2012

Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.

Kiphuth IC et al.

Journal of Neurology, 2010

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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."