Table 2.
ABCC8 mutations identified in PAH patients and their consequences for the Sur1/Kir6.2 channel function.
| ABCC8 Mutation (AA) | ABCC8 Mutation (Nucleic Acid) | Number of PAH Patients Carrying the Mutation | Zygosity | Function | Function Restored by Diazoxide | |
|---|---|---|---|---|---|---|
| (Patch Clamp) | (Rubidium (86Rb+) Efflux Assays) | |||||
| N72D | 214 A > G | 1 | Heterozygous | / | / | / |
| G111R | 331 G > A | 1 | Heterozygous | / | / | / |
| L135V | 403 C > G | 1 | Heterozygous | loss | decrease | yes |
| E186D | 558 G > T | 1 | Heterozygous | loss | not decrease | yes |
| T229I | 686 C > T | 1 | Heterozygous | / | / | / |
| A240T | 718 G > A | 1 | Heterozygous | loss | decrease | yes |
| E791Q | 2371 G > C | 1 | Heterozygous | loss | small decrease | yes |
| D813N | 2437 G > A | 1 | Heterozygous | loss | decrease | yes |
| R958H | 2873 G > A | 1 | Heterozygous | not loss | decrease | yes |
| R1314H | 3941 G > A | 1 | Heterozygous | loss | small decrease | yes |
| D1472N | 4414 G > A | 1 | Heterozygous | loss | decrease | yes |
| / | 2694 T > 2G | 1 | Heterozygous | / | / | / |