|
rs267607125
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We used a murine model of hypertrophic cardiomyopathy (HCM) harboring a cardiac troponin C (cTnC) Ca<sup>2+</sup>-sensitizing mutation, Ala8Val in the regulatory N-domain.
|
30138628 |
2018 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.
|
28473771 |
2017 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.
|
28533433 |
2017 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
|
27604170 |
2016 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.
|
26976709 |
2016 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.
|
26304555 |
2015 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.
|
23425245 |
2013 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.
|
22489623 |
2012 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.
|
21056975 |
2011 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
|
20459070 |
2010 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
|
19439414 |
2009 |
|
rs267607125
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
|
18572189 |
2008 |
|
rs730881061
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs267607124
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The hypertrophic cardiomyopathy-associated mutant D145E, in cardiac troponin C (cTnC) C-domain, causes generalised instability at multiple sites in the isolated protein.
|
28386062 |
2017 |
|
rs267607124
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Therefore, we reconstituted rabbit soleus fibers and bovine masseter myofibrils with mutant cTnCs (A8V, C84Y, E134D, and D145E) associated with HCM to investigate their effects on contractile force and ATPase rates, respectively.
|
28473771 |
2017 |
|
rs267607124
|
|
|
0.060 |
GeneticVariation |
BEFREE |
One variant (D145E) that was previously reported in association with hypertrophic cardiomyopathy and that produced results in vivo in this study consistent with prior hypertrophic cardiomyopathy functional studies was found associated with the MYBPC3 P910T rare variant, likely contributing to the observed DCM phenotype.
|
21832052 |
2011 |
|
rs267607124
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
|
20459070 |
2010 |
|
rs267607124
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Recently four new hypertrophic cardiomyopathy mutations in cardiac troponin C (cTnC) (A8V, C84Y, E134D, and D145E) were reported, and their effects on the Ca(2+) sensitivity of force development were evaluated (Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen, S. R., Potter, J. D., and Ackerman, M. J.(2008) J. Mol.Cell.Cardiol.45, 281-288).
|
19439414 |
2009 |
|
rs267607124
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Functional studies with these recombinant HcTnC HCM mutations showed increased Ca(2+) sensitivity of force development (A8V, C84Y and D145E) and force recovery (A8V and D145E).
|
18572189 |
2008 |
|
rs267607123
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Characterization of the L29Q Hypertrophic Cardiomyopathy Mutation in Cardiac Troponin C by Paramagnetic Relaxation Enhancement Nuclear Magnetic Resonance.
|
30620548 |
2019 |
|
rs267607123
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Therefore, it appears unlikely that hcTnC(L29Q) induces the development of HCM by affecting the regulation of Ca2+-activated force and interference with PKA-mediated modulation of the Ca2+ sensitivity of contraction.
|
19506933 |
2009 |
|
rs267607123
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Two novel mutations (G159D and L29Q) in cardiac troponin C (CTnC) associate their phenotypic outcomes with dilated (DCM) and hypertrophic cardiomyopathy (HCM), respectively.
|
18820258 |
2008 |
|
rs267607123
|
|
|
0.040 |
GeneticVariation |
BEFREE |
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.
|
16302972 |
2005 |
|
rs397516847
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Therefore, we reconstituted rabbit soleus fibers and bovine masseter myofibrils with mutant cTnCs (A8V, C84Y, E134D, and D145E) associated with HCM to investigate their effects on contractile force and ATPase rates, respectively.
|
28473771 |
2017 |
|
rs267607126
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Recently four new hypertrophic cardiomyopathy mutations in cardiac troponin C (cTnC) (A8V, C84Y, E134D, and D145E) were reported, and their effects on the Ca(2+) sensitivity of force development were evaluated (Landstrom, A. P., Parvatiyar, M. S., Pinto, J. R., Marquardt, M. L., Bos, J. M., Tester, D. J., Ommen, S. R., Potter, J. D., and Ackerman, M. J.(2008) J. Mol.Cell.Cardiol.45, 281-288).
|
19439414 |
2009 |