Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres. 27557662

2016

dbSNP: rs104894724
rs104894724
0.740 GeneticVariation BEFREE We recently reported that introduction of an HCM-associated mutation in either inhibitory-peptide (cTnI(R146G)) or cardiac-specific N-terminus (cTnI(R21C)) of cTnI blunts the PKA-mediated modulation on myofibril activation/relaxation kinetics by prohibiting formation of intrasubunit contacts between these regions. 27150586

2016

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. 21533915

2011

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations. 20641121

2010

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice. 19651143

2009

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. 19035361

2009

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. 18409188

2008

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes. 18548271

2008

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice. 18430738

2008

dbSNP: rs104894724
rs104894724
0.740 GeneticVariation BEFREE These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice. 18430738

2008

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. 17599605

2007

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326

2007

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Reduced peak current of L-type Ca(2+) channel in cells transduced with cTnI R146W might contribute to the disease-causing mechanism of this mutation in patients with hypertrophic cardiomyopathy. 18269819

2007

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I. 16531415

2006

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. 16288990

2005

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils. 15718266

2005

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China. 15992656

2005

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I. 16020591

2005

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out. 15961398

2005

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR The role of electrostatics in the interaction of the inhibitory region of troponin I with troponin C. 16274223

2005

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy. 14575308

2003

dbSNP: rs104894724
rs104894724
A 0.740 CausalMutation CLINVAR Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy. 12746413

2003

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. 11853553

2002

dbSNP: rs104894724
rs104894724
C 0.740 CausalMutation CLINVAR Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy. 11801593

2002