Table 1.
Potassium channel subfamily K member 3 (KCNK3) mutations identified in PAH patients and their consequences for the KCNK3/TASK-1 channel function.
| KCNK3 Mutation (AA) | KCNK3 Mutation (Nucleic Acid) | Number of PAH Patients Carrying the Mutation | Number of Healthy Carrier | Zygosity | Function (Patch Clamp) | Function Restored by ONO-RS-082 | References |
|---|---|---|---|---|---|---|---|
| T8K | 1 | Heterozygous | loss | yes | [50] | ||
| G97R | 289 G > A | 2 | 1 | Heterozygous | loss | / | [50] |
| G106R | 316 G > C | 2 | 1 | Heterozygous and homozygous | loss | no | [51] |
| A114V | 341C > T | 1 | Heterozygous | / | / | [53] | |
| K145M | 434 A > T | 1 | Heterozygous | / | / | [52] | |
| E182K | 1 | Heterozygous | loss | yes | [50] | ||
| A189T | 565 G > A | 1 | Heterozygous | / | / | [52] | |
| Y192C | 1 | Heterozygous | loss | / | [50] | ||
| G203D | 608 G > A | 6 | 1 | Heterozygous | loss | no | [50,55] |
| V206L | 616 G > T | 1 | Heterozygous | / | / | [54] | |
| L214R | 641 T > G | 1 | Heterozygous | loss | no | [51] | |
| V221L | 661 G > C | 1 | Heterozygous | loss | / | [50] |