Fig. 1
From: NKX2-5 variants screening in patients with atrial septal defect in Indonesia
The results of NKX2-5 sequencing show three variants at the codons 63, 413, and 561. The first variant is NM_004387.4:c.63A>G at exon 1, consisting of heterozygous AG and homozygous GG. The second variant is a heterozygous GA (NM_004387.4:c.413G>A), and the last variant is a heterozygous GC (NM_004387.4:c.561G>C). The first variant is a synonymous variant. However, variants at codons 413 and 561 are non-synonymous (arginine replaced with glutamine at 138 and glutamine substituted with histidine at 187). Glu (glutamic acid), Arg (arginine), Gln (glutamine), His (histidine), NH2 (amino-end), TN (transcriptional activation domain), HD (homeodomain), NK (NK2 specific domain), COOH (carboxyl end)