Mutations tested in the X. laevis oocyte system
Subunit | Human Mutation | Tested in the X. laevis Oocyte as Expression System | % of the WTa | Reference |
---|---|---|---|---|
a WT, wild-type ENaC. | ||||
α | I68 frameshift | Human αI68fr ratβ ratγ | 0.1% | 138 |
C133Y | Rat αC158Yβγ | 71% at 19°C | 139 | |
13% at 30°C | ||||
R492 stop | Human αR492*βγ | 2% | Bonny O, manuscript in preparation | |
R508 stop | Human αR508*βγ | 8% | 42 | |
Rat αL535*βγ | 13% | |||
S562L | Rat S589Lβγ | <0.1% | Gautschi I, Schild L, Kellenberger S, personal communication | |
β | G37S | Rat αβG37Sγ | 50% | 47, 106 |