Table 2.
Predicted AA location and functional impact of CYP2D6 variants found in WES of iPAH and METH-PAH patients
| Allele Frequency, % |
||||||
|---|---|---|---|---|---|---|
| CYP2D6 SNV | Predicted Allele Frequency, % | IPAH | METH-PAH | Function | AA Switch | AA Position |
| rs5030867 | 0.05 | 9 | 0 | Missense | His→Pro | 324 |
| rs1058172 | 16.7 | 63.6 | 58.8 | Missense | Arg→His | 365 |
| rs16947 | 66 | 95 | 95 | Missense | Arg→Cys | 296 |
| rs1135840 | 64 | 64 | 82.3 | Missense | Ser→Thr | 486 |
| rs1135828 | 0.23 | 9.1 | 0 | Missense | Met→Lys | 279 |
| rs28371704 | 17 | 9 | 26.3 | Missense | His→Arg | 94 |
| rs28371703 | 16.3 | 9 | 10.5 | Missense | Leu→Met | 91 |
iPAH, idiopathic PAH; SNV, single nucleotide variant; AA, amino acid.