Sequence variations observed in the mutation screening procedure performed in 63 unrelated inflammatory bowel disease (IBD) cases
| Heterozygous/homozygous patients | ||||||
|---|---|---|---|---|---|---|
| Location | Nucleotide change | Peptide change | Protein domain | Allele frequency | CD (n=54) | UC (n=9) |
| The A of the ATG of the initiator Met codon derived from the sequence published by Bertin and colleagues8 and Inohara and colleagues7 was denoted as “nucleotide+1”. | ||||||
| *Non-conservative variants. | ||||||
| CD, Crohn’s disease; UC, ulcerative colitis; NBD, nucleotide binding domain; LRR, leucine rich repeats. | ||||||
| Exon 3 | 483 C>T | D161D | — | 0.28 | 24/4 | 4/0 |
| Exon 3 | 796 G>A | E266K* | NBD | 0.28 | 24/4 | 4/0 |
| Exon 3 | 1114 G>A | D372N* | NBD | 0.008 | 1/0 | 0 |
| Exon 3 | 1662 G>A | A554A | — | 0.07 | 11/0 | 0 |
| Exon 3 | 1722 G>A | A574A | — | 0.28 | 22/4 | 3/1 |
| Exon 3 | 2058 C>T | N686N | LRR | 0.008 | 1/0 | 0 |
| Exon 3 | 2114 G>A | R705Q | LRR | 0.008 | 1/0 | 0 |
| Exon 5 | 2360 C>T | T787M* | LRR | 0.008 | 1/0 | 0 |
| Exon 5 | 2360 C>A | T787K* | LRR | 0.008 | 1/0 | 0 |