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Table 2 Selected filaggrin mutations according Sandilands et al.

From: Genetic susceptibility for cow’s milk allergy in Dutch children: the start of the allergic march?

FLG mutation

Amplicon

Repeat

g. (H19)

c.

ATG

bp

p.

Ethnicityb

R501X

FLG-1

1

152285861

1501

2072

C>T

501

EUR/AM

2282del4

FLG-2

1

152285080

2282

2853

del4 (CAGT-2286)

761/762

EUR/AM

3702delG

FLG-3

3

152283660

3702

4273

delG

1234

IR

R1474X

FLG-4

4

152282942

4420

4991

C>T

1474

IR

5360delG

FLG-5

5

152282002

5360

5931

delG

1787

NL

6867delAG

FLG-6

6

152280495

6867

7438

delAG (AG-2268)

2289/2290

AUS

E2422X

FLG-7

7

152280098

7264

7835

G>T

2422

NL

7267delCA

FLG-7

7

152280095

7267

7838

delCA (CA-7268)

2423

NL

R2447X

FLG-7

7

152280023

7339

7910

C>G

2447

IR

S3247X

FLG-8

9

152277622

9740

10311

C>A

3247

IR

11029delCA

FLG-9

10

152276333

11029

11600

delCA (CA-11030)

3677

IR

11033del4

FLG-9

10

152276329

11033

11604

Del4(CAGT-11036)

3678/3679

NL

Q3683X

FLG-9

10

152276312

11050

11050

C>T

3684a

Ir

  1. aSandilands reported p. 3683. FLG filaggrin, g genomic position, c coding postion, ATG distance from transcription start site, bp basepair change(s), p. affected amino acid
  2. bEthnic group were mutations were first reported, adapted from Sandilands et al. EUR (European), AM (American.), IR (Irish), AUS (Austrian), NL (Dutch)