Table 1.
Relevant PKHD1 and PKD2 truncating mutations
| Mutation (cDNA) | Number of Affected Families | Mutation (protein) | Positions of Engineered Protein Truncations in HEK-293 Cells |
|---|---|---|---|
| PKHD1* | |||
| c.126delT | 2 | F42fs | 36 |
| c.711_714del | 4 | M238fs | 221 |
| c.3761_3762delCCinsG | 26 | A1254fs | 1256 |
| c.9689delA | 24 | D3230fs | 3226 |
| PKD2** | |||
| c.958C>T | 14 | R320X | 321 |
| c.2224C>T | 6 | R742X | 746 |
| c.2407C>T | 8 | R803X | 804 |
| c.2419C>T | 13 | R807X | 805 and 808 |
PKHD1, polycystic kidney and hepatic disease 1 gene; PKD2, polycystic kidney disease 2 gene; HEK-293, human embryonic kidney cell line.
*
Based on the Mutation Database Autosomal Recessive Polycystic Kidney Disease.
**
Based on the Autosomal Dominant Polycystic Kidney Disease Database.