Variant: rs111033559 

    present in Gene: PLN;CEP85L
    present in Chromosome: 6
    Position on Chromosome: 118558946
    Alleles of this Variant: C/T

rs111033559 in PLN;CEP85L gene and CARDIOMYOPATHY, DILATED, 1P PMID 22137083 2011 Mutations in the human phospholamban gene in patients with heart failure.

PMID 16432188 2006 A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy.

PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 12610310 2003 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

rs111033559 in PLN;CEP85L gene and Cardiomyopathy, Dilated PMID 22427649 2012 Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

PMID 19139388 2009 Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition.

PMID 22707725 2012 Lethal, hereditary mutants of phospholamban elude phosphorylation by protein kinase A.

PMID 18056057 2008 Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses.

PMID 21282613 2011 Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.

PMID 25593317 2015 Acute inotropic and lusitropic effects of cardiomyopathic R9C mutation of phospholamban.

PMID 12610310 2003 Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban.

PMID 25928149 2015 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.

PMID 23308118 2013 Structure-function relation of phospholamban: modulation of channel activity as a potential regulator of SERCA activity.