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Table 1 Clinical information and variant characteristics of TBX2 and TBX3 in patients with CTDs

From: Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing

Patient Gender Age Cardiac phenotype Gene Location in gene Function Nucleotide change Amino acid change dbSNP ID SIFT Mutation taster PolyPhen-2 ExAC allele frequency
1 F 4 months TOF TBX2 exon7 Missense 1822C>T R608W rs764896880 0.01 Disease causing 1.000 1.726e−05
2 F 8 months TOF TBX2 exon3 Missense 746C>T T249I rs778075071 0.02 Disease causing 0.967 6.633e−05
3 F 5 months SV TBX2 exon3 Missense 746C>T T249I rs778075071 0.02 Disease causing 0.967 6.633e−05
4 F 5 years SV TBX2 exon3 Missense 746C>T T249I rs778075071 0.02 Disease causing 0.967 6.633e−05
5 M 6 months TOF TBX2 exon7 Missense 1847G>A R616Q rs191930922 0.01 Disease causing 0.865 0.0008162
6 F 3 years SA TBX2 exon7 Missense 1847G>A R616Q rs191930922 0.01 Disease causing 0.865 0.0008162
7 M 1 year TGA TBX3 exon6 Missense 574G>A A192T rs768160499 0.11 Disease causing 1.000 2.471e−05
8 M 1 year TOF TBX3 exon1 Missense 193A>C M65L / 0.56 Disease causing 0.734 8.675e−06
9 M 5 months TOF TBX3 exon7 Missense 1685C>T A562V rs201325654 0.1 Disease causing 0.849 0.002761
10 M 6 months TOF TBX3 exon7 Missense 1685C>T A562V rs201325654 0.1 Disease causing 0.849 0.002761
11 F 5 months TOF TBX3 exon7 Missense 1685C>T A562V rs201325654 0.1 Disease causing 0.849 0.002761
12 F 6 months TOF TBX3 exon7 Missense 1685C>T A562V rs201325654 0.1 Disease causing 0.849 0.002761
13 M 4 years TGA TBX3 exon7 Missense 1685C>T A562V rs201325654 0.1 Disease causing 0.849 0.002761
  1. F female, M male, CTDs conotruncal heart defects, TOF tetralogy of Fallot, SA single atrium, SV single ventricle, TGA transposition of the great arteries