Table 2 (continued).
|
No (%) of Variant Alleles in Patient Group |
||||||
| Location andNucleotideChange | PeptideChange | PolymorphicMarkera | ProteinDomain | CD (n=906) | UC (n=318) | Control (n=206) |
| IVS6: | ||||||
| IVS6+35 T→A | Unknown | 1 | 0 | 0 | ||
| IVS7: | ||||||
| IVS7-5 T→C | Unknown | 1 | 0 | 0 | ||
| Exon 7: | ||||||
| 2656 G→A | A885T | LRR6 | 0 | 1 | 0 | |
| Exon 8: | ||||||
| 2722 G→C | G908R | SNP12 | LRR6 | 55 (6) | 1 (.3) | 2 (1) |
| 2739 C→T | D913D | LRR7 | 1 | 0 | 0 | |
| 2753 C→A | A918D | LRR7 | 8 | 0 | 1 | |
| 2771 G→A | G924D | LRR7 | 1 | 0 | 0 | |
| Exon 9: | ||||||
| 2817 T→C | I939I | LRR8 | 1 | 0 | 0 | |
| 2863 G→A | V955I | LRR8 | 63 (7) | 31 (10) | 21 (10) | |
| Exon 10: | ||||||
| 2914 G→A | V972I | LRR9 | 1 | 0 | 0 | |
| 2925 C→T | L975L | LRR9 | 0 | 2 | 0 | |
| 2933 G→A | G978E | LRR9 | 1 | 0 | 0 | |
| Exon 11: | ||||||
| 3020insC | 1007fs | SNP13 | LRR10 | 96 (11) | 4 (1) | 4 (2) |
| IVS12: | ||||||
| IVS12-102 C→G | Unknown | 1 | 0 | 0 | ||
| Exon 12: | ||||||
| 3′ UTR +11 G→A | Unknown | 1 | 0 | 0 | ||
Note.— Variations were denoted according to the largest sequence reported by Ogura et al. (2001b). The A of the ATG of the initiator Met codon was denoted as “nucleotide +1.” Probable DCMs are indicated in boldface italics.
a
The correspondence with the polymorphic sites described elsewhere (Hugot et al. 2001) is indicated.