Table 4.
Scope of INF2 mutations in familial FSGS
| Mutation | Exon | Ancestry | Number of families with change | Age of onset (years) | Reference |
|---|---|---|---|---|---|
| A13T | 2 | European | 1 | 21 | 8 |
| L42P | 2 | European | 1 | 11–13 | 8 |
| L76P | 2 | European | 1 | 27–44 | 13 |
| R177H | 4 | European | 3 | 19–34 | 13 and present study |
| E184K | 4 | African American | 1 | 17–30 | 8 |
| E184Q | 4 | European | 1 | 20–37 | Present study |
| S186P | 4 | European | 2 | 12–67 | 8 |
| Y193H | 4 | Middle East | 1 | 24 | 13 |
| L198R | 4 | European/North Africa | 2 | 13–36 | 8 and 13 |
| N202D | 4 | European | 1 | 19–24 | Present study |
| A203D | 4 | European | 1 | 14–24 | Present study |
| R214C | 4 | European/Hispanic | 3 | 5–44 | 13 and present study |
| R214H | 4 | European | 4 | 12–72 | 8 and present study |
| R218Q | 4 | European | 4 | 10–46 | 8, 13 and present study |
| R218W | 4 | African American | 1 | 27–33 | 8 |
| E220K | 4 | European/Korean | 3 | 7–30 | 8, 10, 13 |