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GENATLAS PHENOTYPE
last update : 16-03-2011
Symbol ASD3
Location 14q11.2
Name atrial septal defect 3
Corresponding gene MYH6
Other symbol(s) ASD2
Main clinical features
  • atrial septal defect of the ostium secundum type and of the ostium primum type, isolated
  • also other isolated congenital heart defects (CHD) (PMID: 20656787))
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type malformation
    Gene product
    Name myosin, heavy polypeptide 6, cardiac muscle, alpha
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     at the IQ domain
    Remark(s) . A230P mutation significantly disrupts assembly of the myosin molecules into higher-order structures (PMID: 20656787))