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References OMIM Gene GeneReviews HGMD HGNC
last update : 26/02/08
Symbol ASD5
Location 15q14
Name atrial septal defect 5
Corresponding gene ACTC1
Other symbol(s) ASD3
Main clinical features . isolated secundum atrial septal defect, with variable clinical expression, confirmed by echocardiography; the penetrance appeared complete
  • cardiomyopathy or other cardiovascular anomalies were excluded in all affected individuals
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function relative mild and specific effect of the M123V actin with reduced affinity for myosin compared with WT actin, but the M123V actin retains a normal actin filament polymerization ability and normal actomyosin motor function