Table 2.
Selected filaggrin mutations according Sandilands et al.
| 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 |
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
bEthnic group were mutations were first reported, adapted from Sandilands et al. EUR (European), AM (American.), IR (Irish), AUS (Austrian), NL (Dutch)