Table 2

Sequence variations observed in the mutation screening procedure performed in 63 unrelated inflammatory bowel disease (IBD) cases

Heterozygous/homozygous patients
LocationNucleotide changePeptide changeProtein domainAllele frequencyCD (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 3483 C>TD161D0.2824/44/0
Exon 3796 G>AE266K*NBD0.2824/44/0
Exon 31114 G>AD372N*NBD0.0081/00
Exon 31662 G>AA554A0.0711/00
Exon 31722 G>AA574A0.2822/43/1
Exon 32058 C>TN686NLRR0.0081/00
Exon 32114 G>AR705QLRR0.0081/00
Exon 52360 C>TT787M*LRR0.0081/00
Exon 52360 C>AT787K*LRR0.0081/00