Table 2.
Summary of GATA4 sequence variations in diseased cardiac tissues of patients with CHD
| Nucleotide change NM_002052 | Coding region | Amino acid change | Location | Positive hearts (n = 29 VSD) | Positive hearts (n = 16 ASD) | Positive hearts (n= 23 AVSD) | Total | PCR-RFLP assay |
| NONSYNONYMOUS** | ||||||||
| 1599 | c.1081A>G | p.Met361Val | exon 6 | 1 | 1 | |||
| 1648 | c.1130G>A | p.Ser377Asn | exon 6 | 1 | 1 | |||
| 1806 | c.1288C>G | p.Leu430Val | exon 7 | 1 | 1 | 2 | ||
| 1813 | c.1295T>C | p.Leu432Ser | exon 7 | 1 | 1 | |||
| 1842 | c.1324G>A | p.Ala442Thr | exon 7 | 1 | 1 | |||
| 3'UNTRANSLATED REGION | ||||||||
| 1857 | c.+10T>C | exon 7 | 1 | 2 | 4 | 7 | EarlI | |
| 1891 | c.+44T>A | exon 7 | 1 | 3 | 4 | |||
| 1924 | c.+77C>T | exon 7 | 2* | 3* | 5 | Styl | ||
| 2065 | c.+218C>T | exon 7 | 1 | 3 | 4 | EarlI | ||
| 2106 | c.+259A>G | exon 7 | 1 | 1 | 2* | 4 | ||
| 2127 | c.+280T>C | exon 7 | 1 | 3* | 1 | 5 | ||
| 2289 | c.+442A>G | exon 7 | 1 | 1 | 1 | 3 | ||
| 2309 | c.+462T>C | exon 7 | 1 | 4 | 1 | 6 | ||
| 2326 | c.+479A>G | exon 7 | 1* | 1 | 1 | 3 | NarI | |
| 2201 | c.+354A>C | exon 7, dbSNPrs867858 | 27AA:2AC | 12AA:4AC | 19AA:3AC:1CC | 58AA:9AC:1CC | MspA1I | |
| 2273 | c.+426C>T | exon 7, dbSNPrs1062219 | 1CC:8CT:20TT | 2CT: 13TT | 1CC: 4CT:18TT | 2CC:14CT:51TT | ||
| 2364 | c.+517T>C | exon 7, dbSNPrs884662 | 9TT:16CT:4CC | 4TT:11CT | 4TT:15CT:4CC | 17TT:42CT:8CC | ||
| 2379 | c.+532T>C | exon 7, dbSNPrs904018 | 1TT:9CT:19CC | 9CT:6CC | 1TT:3CT:19CC | 2TT:21CT:44CC | ||
| 2410 | c.+563C>G | exon 7, dbSNPrs12825 | 15CC:8CG:6GG | 2CC:12CG | 15CC:6CG:2GG | 32CC:26CG:8GG | ||
| 2434 | c.+587A>G | exon 7, dbSNPrs804291 | 1AG:28GG | 13GG | 23GG | 1AG:64GG |
* homozygous genotypes observed
** nonsynonymous mutations in exons 3 and 4 reported earlier (Reamon-Buettner and Borlak, J Med Genet 42:e32)