Variant: rs104894724 

    present in Gene: TNNI3
    present in Chromosome: 19
    Position on Chromosome: 55154146
    Alleles of this Variant: G/A;C

rs104894724 in TNNI3 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 11815426 2002 Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 9241277 1997 Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

rs104894724 in TNNI3 gene and CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) PMID 12531876 2003 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

rs104894724 in TNNI3 gene and Cardiomyopathy, Hypertrophic, Familial PMID 15607392 2004 Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

PMID 11735257 2001 Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI.

PMID 12531876 2003 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 27557662 2016 Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.

PMID 18423659 2008 Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants.

PMID 16531415 2006 Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.

PMID 19651143 2009 Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 19289050 2009 Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 21533915 2011 Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

PMID 9241277 1997 Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

rs104894724 in TNNI3 gene and Hypertrophic Cardiomyopathy PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 10806205 2000 Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.

PMID 18548271 2008 Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes.

PMID 10731705 2000 Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils.

PMID 16531415 2006 Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.

PMID 18430738 2008 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.

PMID 11853553 2002 Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.

PMID 14575308 2003 Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.

PMID 16288990 2005 Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.

PMID 12746413 2003 Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.

PMID 15718266 2005 Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.

PMID 15992656 2005 Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.

PMID 17599605 2007 Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

PMID 17932326 2007 Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.

PMID 11724573 2001 Effects of phosphorylation and mutation R145G on human cardiac troponin I function.

PMID 16020591 2005 Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.

PMID 15961398 2005 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.

PMID 16274223 2005 The role of electrostatics in the interaction of the inhibitory region of troponin I with troponin C.

PMID 15607392 2004 Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

PMID 11801593 2002 Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.

PMID 19651143 2009 Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.

PMID 12044157 2002 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.

PMID 21533915 2011 Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

PMID 18269819 2007 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.

PMID 9241277 1997 Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

PMID 20641121 2010 Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.

PMID 19035361 2009 Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

PMID 27557662 2016 Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.