rs74315379
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization.
|
27936050 |
2016 |
rs74315379
|
|
|
0.720 |
GeneticVariation |
BEFREE |
A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210.
|
14654368 |
2003 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
|
12923187 |
2003 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.
|
14654368 |
2003 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.
|
24367593 |
2013 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
|
22675533 |
2012 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
|
23539503 |
2013 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
|
15769782 |
2005 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.
|
11684629 |
2001 |
rs74315379
|
|
A |
0.720 |
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 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations in sarcomere protein genes in left ventricular noncompaction.
|
18506004 |
2008 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
|
15923195 |
2005 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
[Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].
|
19253838 |
2008 |
rs74315379
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
|
15623536 |
2005 |