Mutation distribution of 222 FMF patients (a total of 444 alleles).
| Mutation | Genotype | Patients, n (%) |
|---|---|---|
| Homozygote | 73 (32.8) | |
| M694V/M694V | 63 | |
| M680I/M680I | 9 | |
| E148Q/E148Q | 1 | |
| Compound heterozygote | 41 (18.5) | |
| M694V/M680I | 20 | |
| M694V/V726A | 14 | |
| M680I/V726A | 4 | |
| M694V/R761H | 1 | |
| M694V/E148Q | 1 | |
| M680I/E148Q | 1 | |
| One identified mutation | 81 (36.5) | |
| M694V/– | 43 | |
| M680I/– | 17 | |
| V726A/– | 9 | |
| E148Q/– | 7 | |
| M694I/– | 4 | |
| R761H/– | 1 | |
| Unidentified mutation | NA | 27 (12.2) |
NA: not applicable.