Table 1.
List of selected PRF1 single nucleotide variants (SNVs). Polymorphisms shown have had activity tested by other research groups. For each SNV listed, the resulting protein change and functional consequence is listed. All listed SNVs have been identified in FHL 2* patients, however this list is not exhaustive.
| DNA Change | Protein Change | Domain Location | Functional Consequence | Reference |
|---|---|---|---|---|
| 272C>T | A91V | Region of Low homology I | Decreased activity | 38 |
| 548T>G | V183G | Region of Low homology I | Activity maintained | 5 |
| 577T>C | F193L | Region of Low homology I | Conformational change, protein degraded | 52 |
| 662C>T | T221I | Amphipathic α-helix | Conformational change, protein degraded | 52 |
| 673C>T | R225W | Amphipathic α-helix | Activity abolished | 52 |
| 695G>A | R232H | Amphipathic α-helix | Decreased activity | 52 |
| 755A>G | N252S | Region of Low homology II | Activity maintained | 46 |
| 822C>T | A274A | Region of Low homology II | Activity maintained | 46 |
| 836G>A | C279Y | Region of Low homology II | Activity abolished | 5 |
| 900C>T | H300H | Region of Low homology II | Activity maintained | 46 |
| 1122G>A | W374X | Region of Low homology II | Activity abolished | 5 |
| 1228C>T | R410W | EGF like domain | Conformational change, protein degraded | 52 |
| 1229G>C | R410P | EGF like domain | Conformational change, protein degraded | 52 |
| 1286G>A | G429E | C2 Domain | Activity abolished | 52 |
| 1304C>T | T435M | C2 Domain | Activity abolished | 50 |
| 1313A>G | Y438C | C2 Domain | Matures improperly, some activity present | 50 |
* familial hemophagocytic lymphohistiocytosis type 2.