Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.K206Q
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TNNI3

NM_000363.5:p.K206Q

Associated Papers

Troponin I - a comprehensive review of its function, structure, evolution, and role in muscle diseases.

Han D et al.

Animal Cells and Systems, 2025

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants.

Norrish G et al.

Journal of Medical Genetics, 2024

38296631 (PubMed )
Supplement: jmg-2023-109684supp001.pdf

Exploring contractile protein mechanisms and target medications for cardiomyopathic patients with diastolic dysfunction.

Gerber D et al.

Pediatric Discovery, 2024

Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

Hassoun R et al.

International Journal of Molecular Sciences, 2021

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.

Norrish G et al.

Circulation, 2019

31006259 (PubMed )
Supplement: cir-140-184-s001.pdf

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

The L-type Ca(2+) channel facilitates abnormal metabolic activity in the cTnI-G203S mouse model of hypertrophic cardiomyopathy.

Viola H et al.

The Journal of Physiology, 2016

Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.

Cheng Y et al.

Archives of Biochemistry and Biophysics, 2016

The functional significance of the last 5 residues of the C-terminus of cardiac troponin I.

Gilda JE et al.

Archives of Biochemistry and Biophysics, 2016

Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype.

Marques MA et al.

Frontiers in Physiology, 2016

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

Marston SB

Frontiers in Physiology, 2016

Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development.

Nguyen S et al.

Frontiers in Physiology, 2016

Green Tea Catechin Normalizes the Enhanced Ca2+ Sensitivity of Myofilaments Regulated by a Hypertrophic Cardiomyopathy-Associated Mutation in Human Cardiac Troponin I (K206I).

Warren CM et al.

Circulation. Cardiovascular Genetics, 2015

Troponin I Mutations R146G and R21C Alter Cardiac Troponin Function, Contractile Properties, and Modulation by Protein Kinase A (PKA)-mediated Phosphorylation.

Cheng Y et al.

The Journal of Biological Chemistry, 2015

A novel phosphorylation site, Serine 199, in the C-terminus of cardiac troponin I regulates calcium sensitivity and susceptibility to calpain-induced proteolysis.

Wijnker PJ et al.

Journal of Molecular and Cellular Cardiology, 2015

Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

Zhao Y et al.

Biomed Research International, 2015

Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-terminus of cardiac troponin T: Effects of familial hypertrophic cardiomyopathy mutations cTnI R145G and cTnT R278C, alone and in combination, on filament sliding.

Brunet NM et al.

Archives of Biochemistry and Biophysics, 2014

Investigating the role of uncoupling of troponin I phosphorylation from changes in myofibrillar Ca(2+)-sensitivity in the pathogenesis of cardiomyopathy.

Messer AE et al.

Frontiers in Physiology, 2014

Nuclear tropomyosin and troponin in striated muscle: new roles in a new locale?

Chase PB et al.

Journal of Muscle Research and Cell Motility, 2013

Structural and kinetic effects of hypertrophic cardiomyopathy related mutations R146G/Q and R163W on the regulatory switching activity of rat cardiac troponin I.

Zhou Z et al.

Archives of Biochemistry and Biophysics, 2013

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

Familial hypertrophic cardiomyopathy related E180G mutation increases flexibility of human cardiac α-tropomyosin.

Loong CK et al.

Febs Letters, 2012

Myocardial contractile and metabolic properties of familial hypertrophic cardiomyopathy caused by cardiac troponin I gene mutations: a simulation study.

Wu B et al.

Experimental Physiology, 2012

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

van den Wijngaard A et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011

Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.

Wang F et al.

Journal of Biomedicine & Biotechnology, 2011

Analysis of the sarcomere protein gene mutation on cardiomyopathy - Mutations in the cardiac troponin I gene.

Murakami C et al.

Legal Medicine (tokyo, Japan), 2010

The C terminus of cardiac troponin I stabilizes the Ca2+-activated state of tropomyosin on actin filaments.

Galińska A et al.

Circulation Research, 2010

Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.

Dyer EC et al.

Circulation. Heart Failure, 2009

Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.

Du J et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2008

Troponin: regulatory function and disorders.

Ohtsuki I et al.

Biochemical and Biophysical Research Communications, 2008

Is there a common genetic basis for all familial cardiomyopathies?

Perrot A et al.

European Journal of Heart Failure, 2007

Troponin mutations in cardiomyopathies.

Mogensen J

Advances in Experimental Medicine and Biology, 2007

Ca2+ sensitivity of regulated cardiac thin filament sliding does not depend on myosin isoform.

Schoffstall B et al.

The Journal of Physiology, 2006

A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I.

Preston LC et al.

Journal of Muscle Research and Cell Motility, 2006

Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.

Yumoto F et al.

Biochemical and Biophysical Research Communications, 2005

Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.

Schmidtmann A et al.

The Febs Journal, 2005

A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin.

Gomes AV et al.

Journal of Molecular and Cellular Cardiology, 2005

Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.

Kruger M et al.

The Journal of Physiology, 2005

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.

Gomes AV et al.

Molecular and Cellular Biochemistry, 2004

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

Phosphorylation of human cardiac troponin I G203S and K206Q linked to familial hypertrophic cardiomyopathy affects actomyosin interaction in different ways.

Deng Y et al.

Journal of Molecular and Cellular Cardiology, 2003

Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.

Barta J et al.

Molecular and Cellular Biochemistry, 2003

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

Van Driest SL et al.

Circulation, 2003

Familial hypertrophic cardiomyopathy mutations in troponin I (K183D, G203S, K206Q) enhance filament sliding.

Köhler J et al.

Physiological Genomics, 2003

Effects of T142 phosphorylation and mutation R145G on the interaction of the inhibitory region of human cardiac troponin I with the C-domain of human cardiac troponin C.

Lindhout DA et al.

Biochemistry, 2002

Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

Morimoto S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.

Takahashi-Yanaga F et al.

Journal of Molecular and Cellular Cardiology, 2001

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.

Elliott K et al.

The Journal of Biological Chemistry, 2000

Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy.

Redwood CS et al.

Cardiovascular Research, 1999

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

Kimura A et al.

Nature Genetics, 1997

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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."