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

Figure 4

(a) C→T at position c.766 (NM_001077653.2) in the subject (Exon 5). The affected amino acid (F256L) is a highly conserved residue outside the DNA-binding T-box domain region of the transcriptional activator domain of TBX20 among species. The variants are highlighted with a red rectangle. (c) Family pedigree of mutation carriers. The subject is marked with an arrow. All subjects which were genotyped for TBX20-F256L are indicated with + (carrier) or − (noncarrier).

(a)

(b)

(c)