Summary of GATA4 mutations
| Nucleotide change | Amino acid change | Location | Positive hearts (VSD) | Positive hearts (ASD) | Positive hearts (AVSD) | PCR-RFLP assay | Matched healthy heart tissue |
|---|---|---|---|---|---|---|---|
| *Homozygous genotypes observed. | |||||||
| +1 in nucleotide numbering is A of start codon ATG. | |||||||
| nls, nuclear localisation signal. | |||||||
| c.622T→C | Phe208 Leu | exon 3 | 1 | E22VSD, absent | |||
| c.631T→C | Phe211Leu | exon 3 | 1 | 1 | |||
| c.640G→A | Gly214Ser | exon 3 | 1 | ||||
| c.668T→C | Met223Thr | exon 3, 1st zinc finger | 1 | TaiI | E27VSD, absent | ||
| c.677delC | Pro226fs | exon 3, 1st zinc finger | 1* | F08AVSD, absent | |||
| c.687G→T | Arg229Ser | exon 3, 1st zinc finger | 1 | 1 | 1 | TaqI | E27VSD, absent |
| c.700G→A | Gly234Ser | exon 3, 1st zinc finger | 1 | HinfI | C70/2AVSD, absent | ||
| c.715A→G | Asn239Asp | exon 3, 1st zinc finger | 1 | ||||
| c.716A→G | Asn239Ser | exon 3, 1st zinc finger | 1 | ||||
| c.731A→G | Tyr244Cys | exon 3, basic region | 1 | 1 | |||
| c.743A→G | Asn248Ser | exon 3, basic region | 1 | 1 | BsrBI | F02AVSD, absent | |
| c.755G→C | Arg252Pro | exon 3, basic region | 1 | C70/2AVSD, absent | |||
| c.764T→C | Ile255Thr | exon 3, basic region | 1 | ||||
| c.779G→A | Arg260Gln | exon 3, basic region | 1 | MspA1I | |||
| c.782T→C | Leu261Pro | exon 3, basic region | 1 | 1 | |||
| c.796C→T | Arg266Ter | exon 4 | 1* | MspA1I | F12AVSD, absent | ||
| c.818A→G | Asn273Ser | exon 4, 2nd zinc finger | 1 | AluI | F28AVSD, absent | ||
| c.830C→T | Thr277Ile | exon 4, 2nd zinc finger | 1 | HphI | |||
| c.848G→A | Arg283His | exon 4, 2nd zinc finger | 1 | HhaI | E43AVSD, absent | ||
| c.855T→G | Asn285Lys | exon 4, 2nd zinc finger | 1 | BseMI | |||
| c.874T→C | Cys292Arg | exon 4, 2nd zinc finger | 19* | 6 | 6 | FspI | in 20 matches, absent |
| c.881C→T | Ala294Val | exon 4, 2nd zinc finger | 1 | ||||
| c.905A→G | His302Arg | exon 4, basic region, nls | 1 | SacII | |||