Table 1

MEFV mutations found in 113 consecutive children with periodic fever

Homozygous (n=18)Compound heterozygous (n=26)Heterozygous (n=69)
M694V V726A (6)E148Q (27)
E148Q M694V (4)M694V (14)
M680I V726A (4)K695R (7)
M680I M680I (9)M694I M694V (2)M680I (5)
M694V M694V (4)M680I R761H (2)P369S R408Q* (4)
L110P L110P (1)E148Q R761H (2)A744S (4)
E148Q E148Q (1)(4)V726A (3)
V726A V726A (1)M680I M694V (1)Y232X (1)
R761H R761H (1)E148Q S339F (1)L372P (1)
P369S/P369S + R408Q/R408Q (1)E148Q V726A (1)V487M (1)
E148Q A744S (1)R717L (1)
E225G M680I (1)R761H (1)
S108R V726A (1)
  • * Mutations in cis.