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 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
|
11853553 |
2002 |
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 |
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 |
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 |
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 |
rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease.
|
12242271 |
2002 |
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 |
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 |
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 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
|
17599605 |
2007 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.
|
16020591 |
2005 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.
|
9241277 |
1997 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.
|
20641121 |
2010 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
|
16531415 |
2006 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
|
19651143 |
2009 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.
|
11801593 |
2002 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.
|
15992656 |
2005 |
rs104894724
|
|
A |
0.740 |
CausalMutation |
CLINVAR |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
|
15607392 |
2004 |
rs104894724
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnI is the seventh HCM gene.
|
9241277 |
1997 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes.
|
18548271 |
2008 |
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 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
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.
|
12044157 |
2002 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effects of phosphorylation and mutation R145G on human cardiac troponin I function.
|
11724573 |
2001 |
rs104894724
|
|
C |
0.740 |
CausalMutation |
CLINVAR |
Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils.
|
10731705 |
2000 |