rs397516784
|
PLN;CEP85L
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111033560
|
PLN;CEP85L
|
Cardiac Arrest
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs111033559
|
PLN;CEP85L
|
Cardiomyopathies
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs111033560
|
PLN;CEP85L
|
Cardiomyopathies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397516784
|
PLN;CEP85L
|
Cardiomyopathies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
|
23785128 |
2013 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
|
22820313 |
2012 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathies
|
T |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.
|
12610310 |
2003 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
|
25928149 |
2015 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.
|
18056057 |
2008 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.
|
23308118 |
2013 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
|
0.710 |
GeneticVariation |
BEFREE |
A mouse line with heterozygous transgenic expression of phospholamban carrying a substitution of cysteine for arginine 9 (TgPLN<sup>R9C</sup>) under the control of α-myosin heavy chain (αMHC) promoter features dilated cardiomyopathy, heart failure, and premature death.
|
29325795 |
2018 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.
|
25593317 |
2015 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
|
21282613 |
2011 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.
|
19139388 |
2009 |
rs111033559
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.710 |
CausalMutation |
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
rs111033560
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
|
0.710 |
GeneticVariation |
BEFREE |
Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27.
|
12639993 |
2003 |
rs111033560
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs397516784
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.
|
16432188 |
2006 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation |
CLINVAR |
Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.
|
22427649 |
2012 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes.
|
19324307 |
2009 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation |
CLINVAR |
Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.
|
22707725 |
2012 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation |
CLINVAR |
The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase.
|
22155237 |
2012 |
rs397516784
|
PLN;CEP85L
|
Cardiomyopathy, Dilated
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.
|
17010801 |
2006 |