Research Article
Novel Mutations in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect
Table 3
Synonymous and noncoding sequence variants in this cohort of CHD patients.
| | Nucleotide change | Location | Amino acid change | Number of patients | Cardiac defect |
| |
c.−517C>T | 5′UTR | Non | 1 | VSD | | c.657A>C | Exon 5 | I219I | 3 | ASD | | c.1189C>T | Exon 8 | L397L | 2 | ASD | c.1356A>T
(NM_001077653.2: c12A>T) | 3′UTR | Non | 2 | ASD | c.1357T>A
(NM_001077653.2: c13T>A) | 3′UTR | Non | 2 | ASD | c.1392T>A
(NM_001077653.2: c48T>A). | 3′UTR | Non | 1 | ASD | | c.546−1223dup | Intron 3 | Non | 1 | ASD | | c.1003+99C>T | Intron 7 | Non | 1 | ASD | | c.1003+129T>C | Intron 7 | Non | 1 | ASD |
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VSD: ventricular septal defect; ASD: atrial septal defect; UTR: untranslated region.
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