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GENATLAS PHENOTYPE
last update : 17-04-2014
Symbol CMD1P
Location 6q22
Name cardiomyopathy dilated or hypertrophic, 1P
Corresponding gene PLN
Main clinical features
  • by middle age, left ventricular dilation, contractile dysfunction, and episodic ventricular arrhythmias, with hypertrophic cardiomyopathy and overt heart failure
    • Genetic determination autosomal dominant
    Related entries including CMH18 (OMIM 613874)
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name phospholamban
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/loss of function of arginine 14 in coding region, suppressing basal SERCA2A activity
    missense   abnormal protein/gain of function R975W metaVCL mutation located in a conserved tail region , predicted to cause significant alteration in the secondary structure and helical organization of the protein
    Remark(s) 203A>C genetic variant in the PLN promoter may contribute to depressed contractility and accelerate functional deterioration in heart failure