Table 3.
Changes with no effect on the mRNA processing.
| Nucleotide change (amino acid change) | Exon | Number of patients | PAH type | Reference |
|---|---|---|---|---|
| c.190A > C (p.S64R) | 2 | 1 | IPAH | Pousada et al.10 |
| c.229A > T (p.I77L) | 2 | 1 | IPAH | Pousada et al.10 |
| c.259G > T (p.H87Y) | 3 | 1 | APAH | Pousada et al.10 |
| c.275A > T (p.Q92L) | 3 | 1 | IPAH | Pousada et al.10 |
| c.327G > A (p.Q109Q) | 3 | 1 | APAH | Pousada et al.10 |
| c.327G > C (p.Q109H) | 3 | 1 | APAH | This study |
| c.484G > C (p.A162P) | 4 | 1 | APAH | Pousada et al.10 |
| c.600A > C (p.L200L) | 5 | 1 | IPAH | rs55722784 |
| c.637C > A (p.R213R) | 6 | 1 | IPAH | Pousada et al.10 |
| c.742A > G (p.R248G) | 6 | 1 | IPAH | Pousada et al.10 |
| c.790G > A (p.D264N) | 6 | 1 | IPAH | CD061372 |
| c.1021G > A (p.V341M) | 8 | 3 | APAH | Pousada et al.10 |
| c.1467G > A (p.E489E) | 11 | 1 | APAH | Pousada et al.10 |