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J Med Genet 46:115-122 doi:10.1136/jmg.2008.060277
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Investigation of somatic NKX2-5 mutations in congenital heart disease

Table 2 Summary of NKX2-5 mutations in patients with congenital heart defects
Nucleotide change Predicted amino acid change Location ASD (+) VSD (+) AVCD (+)
Non-synonymous
c.65A>G p.Q22R Exon 1 1
Synonymous
c.63A>G Exon 1 6 4 6
c.543G>A Exon 2 1
c.852C>G Exon 2 1

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

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