Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect

Figure 3

(a) T→G at position c.1184 (NM_001077653.2) in the subject (Exon 8). (b) The affected amino acid (M395R) lies in a highly conserved C-terminal region of the transcriptional activator domain of TBX20 among species. The variants are highlighted with a red rectangle.

(a)

(b)