Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033559
rs111033559
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

dbSNP: rs111033559
rs111033559
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

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban. 25593317

2015

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity. 23308118

2013

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy. 22427649

2012

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A. 22707725

2012

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A. 21282613

2011

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. 19139388

2009

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. 18056057

2008

dbSNP: rs111033559
rs111033559
T 0.710 CausalMutation CLINVAR Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. 12610310

2003