PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033559
rs111033559
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation BEFREE We detected the previously reported PLN c.25C > T (p.R9C) mutation in a South African family with severe autosomal dominant DCM. 26917049 2016
dbSNP: rs761056344
rs761056344
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.010 GeneticVariation BEFREE In this study, we identified a novel PLN mutation (R25C) in dilated cardiomyopathy (DCM) and investigated its functional significance in cardiomyocyte Ca(2+)-handling and contractility. 25852082 2015
dbSNP: rs761056344
rs761056344
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0085612
Disease:
Ventricular arrhythmia 		0.010 GeneticVariation BEFREE This is the first mechanistic evidence that increased PLN inhibition may impact both SR Ca(2+) uptake and Ca(2+) release activities and suggests that the human R25C-PLN may be a prognostic factor for increased ventricular arrhythmia risk in DCM carriers. 25852082 2015
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0018801
Disease:
Heart failure 		0.010 GeneticVariation BEFREE Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27. 12639993 2003
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0018802
Disease:
Congestive heart failure 		0.010 GeneticVariation BEFREE Strikingly, both individuals homozygous for L39stop developed dilated cardiomyopathy and heart failure, requiring cardiac transplantation at ages 16 and 27. 12639993 2003
dbSNP: rs761056344
rs761056344
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.020 GeneticVariation BEFREE Here we use solid-state NMR spectroscopy to investigate the structural dynamics of two lethal PLN mutations, R9C and R25C, which lead to DCM. 29501609 2018
dbSNP: rs761056344
rs761056344
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic 		0.020 GeneticVariation BEFREE This is the first mechanistic evidence that increased PLN inhibition may impact both SR Ca(2+) uptake and Ca(2+) release activities and suggests that the human R25C-PLN may be a prognostic factor for increased ventricular arrhythmia risk in DCM carriers. 25852082 2015
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR Genetic modifiers to the PLN L39X mutation in a patient with DCM and sustained ventricular tachycardia? 26535225 2015
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0878544
Disease:
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
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands-Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy. 23568436 2013
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		T 0.700 CausalMutation CLINVAR The human phospholamban Arg14-deletion mutant localizes to plasma membrane and interacts with the Na/K-ATPase. 22155237 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0878544
Disease:
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
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		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
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
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
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		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
dbSNP: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725 2012
dbSNP: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649 2012
dbSNP: rs111033560
rs111033560
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		G 0.700 CausalMutation CLINVAR PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. 21167350 2011
dbSNP: rs754782171
rs754782171
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C1835928
Disease:
CARDIOMYOPATHY, DILATED, 1P 		0.700 GeneticVariation UNIPROT Mutations in the human phospholamban gene in patients with heart failure. 22137083 2011
dbSNP: rs397516784
rs397516784
Entrez Id: 5350;387119
Gene Symbol: PLN;CEP85L
PLN;CEP85L
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Genetic deletion of arginine 14 in phospholamban causes dilated cardiomyopathy with attenuated electrocardiographic R amplitudes. 19324307 2009