Table 2.

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)
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

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.