Table I.
Mutations screened in the study.
| Gene | Exon | Nucleotide change | Amino acid change |
|---|---|---|---|
| IL10RA | 3 | (C>T) 608 | Thr84Ile |
| IL10RA | 4 | (C>A) 253 | Gly141Arg |
| IL10RB | 4 | (G>A) 421 | Trp159X |
| XIAP | 1 | (G>T) 608 | Cys203Tyr |
| NOD2 | 4 | (C>T) 2104 | Arg702Trp |
| NOD2 | 8 | (G>C) 2722 | Gly908Arg |
| NOD2 | 11 | 3020 insC | Leu1007sinsC |
IL10R, interleukin-10 receptor; XIAP, X-linked inhibitor of apoptosis; NOD2, nucleotide-binding oligomerization domain-containing protein 2; A, adenine, T, thymine; G, guanine; C, cytosine; ins, insertion; X, stop codon.