Table 2.
Single Nucleotide Polymorphism of Blood Vessel Epicardial Substance in Tetralogy of Fallot Samples
| SNP | Tissue | Nucleotide | Genotype | Exon | Protein | MAF in TOF | MAF in NCBI | |
|---|---|---|---|---|---|---|---|---|
| Blood (n = 57) | Tissue (n = 89) | |||||||
| rs143510978 | 1 | 0 | c.408T>G | +/− | Exon4 | p.R136H | G = 1/146 = 0.0034 | G = 0.0022/11 (1000 Genomes) |
| rs751152136 | 0 | 1 | c.195T>C | +/− | Exon2 | p.H65H | A = 1/146 = 0.0034 | C = 0.000008/1 (ExAC) |
| rs2275289 | 4 | 6 | c.385C>T | +/− | Exon4 | p.R129W | T = 10/146 = 0.0351 | T = 0.0050 (1000 Genomes) |
| rs183390165 | 0 | 1 | c.1068C>T | +/− | Exon8 | p.V356V | A = 1/146 = 0.0034 | A = 0.0004/2 (1000 Genomes) |
1000 Genomes, 1000 Genomes Project; ExAC, Exome Aggregation Consortium; +/−, heterozygote.
TOF, Tetralogy of Fallot; MAF, minor allelic frequencies; SNP, single nucleotide polymorphism.