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

Table 2

Missense mutations detected in this cohort of CHD patients.

Nucleotide change	Amino acid change	Exon	Number of Patients	Cardiac defects	PolyPhen 2
c.925T>G	Y309D	7	1	ASD	D
c.1108A>C	T370P	8	1	ASD	B
c.1184T>G	M395R	8	1	ASD	B

ASD: atrial septal defect; PMut: a program predicting whether an amino acid substitution affects protein function; B: benign; D: damaging.