Table 1.
KCNQ1 mutations by location and coding, type of mutation, and functional Effect.
| LOCATION | NO. OF SUBJECTS | TYPE OF MUTATION | FUNCTIONAL EFFECTS* |
|---|---|---|---|
| Transmembrane | |||
| S349W | 15 | Missense | Unknown |
| R190Q | 3 | Missense | Haploinsufficient |
| R591H | 15 | Missense | Haploinsufficient |
| R594Q | 12 | Missense | Haploinsufficient |
| A150fs/133 | 2 | Nonsense | Haploinsufficient |
| Y171X | 4 | Nonsense | Haploinsufficient |
| L191fs/90 | 5 | Nonsense | Haploinsufficient |
| R195fs/40 | 2 | Nonsense | Haploinsufficient |
| P400fs/62 | 3 | Nonsense | Haploinsufficient |
| P448fs/13 | 5 | Nonsense | Haploinsufficient |
| R518X | 5 | Nonsense | Haploinsufficient |
| Q530X | 15 | Nonsense | Haploinsufficient |
| S571fs | 2 | Nonsense | Haploinsufficient |
| A636fs | 2 | Nonsense | Haploinsufficient |
*
Functional effects are based on previously reported data (6-10); the functional effect of the S349W mutation was not reported in prior studies.