Table 2 Summary of NKX2-5 mutations in patients with congenital heart defects
Nucleotide changePredicted amino acid changeLocationASD (+)VSD (+)AVCD (+)
Non-synonymous
c.65A>Gp.Q22RExon 11
Synonymous
c.63A>GExon 1646
c.543G>AExon 21
c.852C>GExon 21

  • ASD, atrial septal defects; AVCD, atrioventricular canal defect; VSD, ventricular septal defects.