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

Figure 2

(a) The relevant sequence electropherogram of A→C at position c.1108 (NM_001077653.2) in the subject (Exon 8). (b) The affected amino acid (T370P) 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)