Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.M305L
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ACTG1

NM_001614.5:p.M305L

Associated Papers

Cryo-EM structures of cardiac muscle α-actin mutants M305L and A331P give insights into the structural mechanisms of hypertrophic cardiomyopathy.

Huang HL et al.

European Journal of Cell Biology, 2024

Functional Characterization of Cardiac Actin Mutants Causing Hypertrophic (p.A295S) and Dilated Cardiomyopathy (p.R312H and p.E361G).

Hassoun R et al.

International Journal of Molecular Sciences, 2022

35457283 (PubMed )
Supplement: ijms-23-04465-s001.zip › ijms-1693968-supplementary.pdf

A role for actin flexibility in thin filament-mediated contractile regulation and myopathy.

Viswanathan MC et al.

Nature Communications, 2020

32415060 (PubMed )
Supplement: 41467_2020_15922_MOESM1_ESM.pdf

Classifying Cardiac Actin Mutations Associated With Hypertrophic Cardiomyopathy.

Despond EA et al.

Frontiers in Physiology, 2018

Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution.

von der Ecken J et al.

Nature, 2016

Using baculovirus/insect cell expressed recombinant actin to study the molecular pathogenesis of HCM caused by actin mutation A331P.

Bai F et al.

Journal of Molecular and Cellular Cardiology, 2014

Regulation of actin by ion-linked equilibria.

Kang H et al.

Biophysical Journal, 2013

A tumorigenic actin mutant alters fibroblast morphology and multicellular assembly properties.

Blache U et al.

Cytoskeleton (hoboken, N.j.), 2013

Functional characterization of the human α-cardiac actin mutations Y166C and M305L involved in hypertrophic cardiomyopathy.

Müller M et al.

Cellular and Molecular Life Sciences : Cmls, 2012

Subdomain location of mutations in cardiac actin correlate with type of functional change.

Mundia MM et al.

Plos One, 2012

Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

Bookwalter CS et al.

The Journal of Biological Chemistry, 2006

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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."