rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.
23663841
2013
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.
20978592
2010
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.
23539503
2013
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Different functional properties of troponin T mutants that cause dilated cardiomyopathy.
12923187
2003
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.
12186860
2002
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.
15623536
2005
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.
15923195
2005
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.
22675533
2012
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.
11106718
2000
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.
23383212
2013
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
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
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.
11773635
2002
rs45578238
×
Entrez Id:
7139
Gene Symbol:
TNNT2
TNNT2
CARDIOMYOPATHY, DILATED, 1D (disorder)
A
0.700
CausalMutation
CLINVAR
Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.
20079745
2010