|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Mutations in cardiac troponin C (D75Y, E59D, and G159D), a key regulatory protein of myofilament contraction, have been associated with dilated cardiomyopathy (DCM).
|
27133568 |
2016 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, Ca(2+) sensitivity did not change with the level of troponin I phosphorylation in any of the DCM-mutant containing thin filaments (E40K, E54K, and D230N in α-tropomyosin; R141W and ΔK210 in cardiac troponin T; K36Q in cardiac troponin I; G159D in cardiac troponin C, and E361G in cardiac α-actin).
|
23539503 |
2013 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
DCM troponin C mutant Gly159Asp blunts the response to troponin phosphorylation.
|
17577574 |
2007 |
|
rs104893823
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Functional effects of the DCM mutant Gly159Asp troponin C in skinned muscle fibres.
|
17021793 |
2007 |
|
rs1471808574
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs730881063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
As a result, 7 novel mutations (MYPN, p.E630K; TNNT2, p.G180A; MYH6, p.R1047C; TNNC1, p.D3V; DES, p.R386H; MYBPC3, p.C1124F; and MYL3, p.D126G), 3 variants of uncertain significance (RBM20, p.R1182H; MYH6, p.T1253M; and VCL, p.M209L), and 2 known mutations (MYH7, p.A26V and MYBPC3, p.R160W) were revealed to be associated with DCM.
|
26458567 |
2015 |
|
rs267607124
|
|
|
0.010 |
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 |
|
rs397516848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report the clinical, genetic, and functional characterization of four TNNC1 rare variants (Y5H, M103I, D145E, and I148V), all previously reported by us in association with DCM (Hershberger, R. E., Norton, N., Morales, A., Li, D., Siegfried, J. D., and Gonzalez-Quintana, J.(2010) Circ.Cardiovasc.Genet.
|
21832052 |
2011 |