Table 3

Mutational status in MEFV gene of included patients

Heterozygous (class IV-V/WT and class IV-V/III)Class IV-V variantHomozygous (only class IV/V variant)Compound heterozygous (only class IV/V variant)Class III
Class IV-V variantnAdditional class III variantnnnCass III variantIII/WT nIII/III n
Total224Total57Total233402 (201 patients)Total4980 (40 patients)
M694V152E148Q34M694V196154A744S6
M694I14P369S5M694I730E148Q2842
M680I13A744S6M680I1473K695R81
V726A35K695R8V726A12104I591T32
R761H4E230K1R761H326R202Q20
M680L1I641F1M680L01R653H10
Q97K1R354W1F479L08G196W10
S42R1I59T1E167D04L110P04
T267I1M694L10P369S020
A89T1I692del01R408Q09
M694L1Other02Other02
  • WT, wild type.