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

Figure 1

(a) The relevant sequence electropherogram of tbx20 (NM_001077653.2) in Exon 7 of the subject. (b) The affected amino acid (Y309D) lies in a highly conserved C-terminal region of the transcriptional activator domain of TBX20. Affected region of TBX20 homologues and human TBX paralogues are shown. The variants are highlighted with a red rectangle.

(a)

(b)