Genotype-phenotype correlation when availablea
| Mutations | % of the WT Activity in the Oocyte | First Episode of PHA (d) | Na+ (mmol/L) | K+ (mmol/L) | PAC (μg/L) | Other Organs Involved than Kidney | Reference |
|---|---|---|---|---|---|---|---|
| a PAC, plasma aldosterone concentration; to translate μg/L in nmol/L, multiply by 2.771; normal range for neonates, 0.20 to 1.00 μg/L. WT, means wild-type; ND, not determined. | |||||||
| αI68fr | 0.1% | 7 | 124 | 7.7 | 1.87 | ND | 106 |
| αI68fr | 0.1% | 1 | 126 | 11.2 | 6.28 | ND | 106 |
| αI68fr | 0.1% | 8 | 128 | 10.9 | 15.16 | ND | 106 |
| αC133Y | 13% | 14 | 147 | 8.2 | 6.24 | ND | Lifton RP, personal communication |
| αS483fr | ND | 9 | 116 | 10.4 | 11.91 | yes, sweat glands and lung | 119 |
| αR492stop | 2% | 7 | 124 | 9.7 | 6.50 | yes, sweat glands | Bonny O, manuscript in preparation |
| αR508stop | 8% | 9 | 125 | 10 | 14.32 | yes, lung, salivary and sweat glands | 106 |
| αS243fr/αS483fr | ND | 5 | 124 | 10.4 | 11.15 | Unknown | 119 |
| αS243fr/αS483fr | ND | 4 | 129 | 8.4 | 4.8 | yes, sweat glands and lung | 119 |
| αS562L/αS483fr | ND (<0.1% for S562L) | 11 | 106 | 11.4 | 2.17 | yes, sweat glands and lung | 119 |
| βG37S | 50% | 19 | 133 | 8.2 | 1.00 | ND | 106 |
| γV543fr/splice site mutation | ND | 7 | 116 | 8.6 | 10.73 | yes, lungs | 153 |