Table 2 Distribution of MEFV gene mutations among Iranian FMF patients

Common mutations

1

16:3293407 T/C (rs61752717)

c.2080A > G

p.Met694Val (p.M694V)

Exon10

Pathogenic

1725 (20.27)

2

16:3304626 C/G (rs3743930)

c.442G > C

p.Glu148Gln (p.E148Q)

Exon2

VUS

874 (10.27)

3

16:3293310 A/G (rs28940579)

c.2177T > C

p.Val726Ala (p.V726A)

Exon10

Pathogenic

701 (8.24)

4

16:3293447 C/G or T (rs28940580)

c.2040G > C or c.2040G > A

p.Met680Ile (p.M680I)

Exon10

Pathogenic

613 (7.20)

5

16:3293205 C/T (rs104895097)

c.2282G > A

p.Arg761His (p.R761H)

Exon10

Likely pathogenic

179 (2.10)

6

16:3293405 C/T (rs28940578)

c.2082G > A

p.Met694Ile (p.M694I)

Exon10

Pathogenic

179 (2.10)

7

16:3299586 G/A (rs11466023)

c.1105C > T

p.Pro369Ser (p.P369S)

Exon3

VUS

42 (0.49)

8

16:3293257 C/A (rs61732874)

c.2230G > T

p.Ala744Ser (p.A744S)

Exon10

VUS

38 (0.45)

9

16:3297166 G/C (rs104895083)

c.1437C > G

p.Phe479Leu (p.F479L)

Exon5

Likely pathogenic

15 (0.18)

Detected mutated alleles

4366 (51.29)

Total alleles

8512 (100.00)

Rare mutations

10

16:3299468 C/T (rs11466024)

c.1223G > A

p.Arg408Gln (p.R408Q)

Exon3

VUS

Rare

11

16:3304567 C/G (rs104895079)

c.501G > C

p.Glu167Asp (p.E167D)

Exon2

Likely pathogenic

Rare

12

16:3293403T/C (rs104895094)

c.2084A > G

p.Lys695Arg (p.K695R)

Exon10

Likely pathogenic

Rare

13

16:3293633 C/G (rs766576175)

c.1854G > C

p.Lys618Asn (p.K618N)

Exon10

NA

Rare

14

16:3293409_3293411delATT (rs104895093)

c.2076_2078del

p.Ile692del (p.I692Del)

Exon10

Likely pathogenic

Rare

15

16:3293592 C/G (rs967990798)

c.1895G > C

p.Gly632Ala (p.G632A)

Exon10

Likely benign

Rare

16

16:3293340T/A (rs1596349932)

c.2147A > T

p.Lys716Met (p.K716M)

Exon10

NA

Rare

17

16:3293646 G/A (rs1332372034)

c.1841C > T

p.Ser614Phe (p.S614F)

Exon10

NA

Rare

18

16:3304661 C/T (rs876660989)

c.407G > A

p.Gly136Glu (p.G136E)

Exon2

VUS

Rare

19

16:3304168 A/C

c.900T > G

p.His300Gln (p.H300Q)

Exon2

NA

Rare

20

16:3306392 C/G (rs765151968)

c.196G > C

p.Ala66Pro (p.A66P)

Exon1

NA

Rare

21

16:3304464 G/A

c.604C > T

p.Arg202Trp (p.R202W)

Exon2

NA

Rare

22

16:3293529 C/T (rs104895085)

c.1958G > A

p.Arg653His (p.R653H)

Exon10

VUS

Rare

23

16:3293463 C/T (rs104895087)

c.2024G > A

p.Ser675Asn (p.S675N)

Exon10

Likely benign

Rare

24

16:3293454 C/T (rs104895088)

c.2033G > A

p.Gly678Glu (p.G678E)

Exon10

VUS

Rare

25

16:3293449T/G (rs104895089)

c.2038A > C

p.Met680Leu (p.M680L)

Exon10

Likely pathogenic

Rare

26

16:3293327 G/C (rs104895102)

c.2160C > G

p.Ile720Met (p.I720M)

Exon10

VUS

Rare

27

16:3293407T/A (rs61752717)

c.2080A > T

p.Met694Leu (p.M694L)

Exon10

Likely pathogenic

Rare

28

16:3293445 G/A (rs104895090)

c.2042C > T

p.Thr681Ile (p.T681I)

Exon10

VUS

Rare

29

16:3304529 G/C (rs104895134)

c.539C > G

p.Pro180Arg (p.P180R)

Exon2

VUS

Rare

30

16:3304202 G/A (rs104895132)

c.866C > T

p.Ala289Val (p.A289V)

Exon2

VUS

Rare

31

16:3304457 C/T (rs775663363)

c.611G > A

p.Arg204His (p.R204H)

Exon2

Not classified

Rare

32

16:3304725 G/T (rs147557169)

c.343C > A

p.Pro115Thr (p.P115T)

Exon2

Likely benign

Rare

33

16:3304158 C/T (rs75977701)

c.910G > A

p.Gly304Arg (p.G304R)

Exon2

Likely benign

Rare

34

16:3304380 C/T (rs104895080)

c.688G > A

p.Glu230Lys (p.E230K)

Exon2

VUS

Rare

35

16:3297080 A/T

c.1523T > A

p.Leu508Gln (p.L508Q)

Exon5

VUS

Rare

36

16:3299754 G/A (rs771254090)

c.937C > T

p.Pro313Ser (p.P313S)

Exon3

NA

Rare

37

16:3299762 G/T

c.929C > A

p.Ala310Asp (p.A310D)

Exon3

NA

Rare

38

16:3293542 G/A

c.1945C > T

p.Leu649Phe (p.L649F)

Exon10

Not classified

Rare