Table 2.
Summary of the ERAP-1 gene mutations.
| Diseases |
|||||||
|---|---|---|---|---|---|---|---|
| Familial Mediterranean Fever (n = 15) |
Ulcerative colitis (n = 15) |
||||||
| MUTATIONS | Heterozygote | Homozygote | Total | Heterozygote | Homozygote | Total | |
| Exon 10 | p.Ser127 Ser (c.1359T>C) | 4 | 4 | – | – | – | |
| p.Ser453 Ser (c.1359T>C) | 5 | 5 | 10 | 6 | 5 | 11 | |
| TOTAL MUTATIONS | 14 | 11 | |||||
| Exon 3 | p.Arg127 Pro (c.380 G>C) | 1 | 7 | 8 | 10 | 2 | 12 |
| p.Arg127 Pro (c.380 G>C) | 1 | ||||||
| p.Thr12Ile Pro (c.35 C>T) | |||||||
| p. Tyr57Tyr (c.171 C>T) | – | 1 | – | 1 | |||
| p.Arg127 Pro (c.380 G>C) | |||||||
| –p.Thr12Ile Pro (c.35 C>T) | – | 2 | – | 1 | |||
| TOTAL MUTATIONS | 11 | 12 | |||||