Table 2.
CARD15 Variants Observed in 453 Patients with CD, 159 Patients with UC, and 103 Healthy Control Subjects[Note]
|
No (%) of Variant Alleles in Patient Group |
||||||
| Location andNucleotideChange | PeptideChange | PolymorphicMarkera | ProteinDomain | CD (n=906) | UC (n=318) | Control (n=206) |
| Exon 2: | ||||||
| 5′ UTR-37 T→G | Unknown | 2 | 1 | 0 | ||
| 5′ UTR-33 G→T | Unknown | 380 (42) | 79 (25) | 68 (33) | ||
| 5′ UTR-15 T→A | Unknown | 1 | 0 | 1 | ||
| 315 G→A | A105A | CARD1 | 1 | 0 | 0 | |
| 357 G→T | L119L | CARD1 | 1 | 0 | 0 | |
| 413 G→A | R138Q | CARD2 | 1 | 0 | 0 | |
| 418 G→A | A140T | CARD2 | 1 | 1 | 0 | |
| 469 T→C | W157R | CARD2 | 1 | 0 | 0 | |
| 534 C→G | S178S | CARD2 | 280 (31) | 135 (42) | 79 (38) | |
| Exon 3: | ||||||
| 566 C→T | T189M | CARD2 | 0 | 1 | 2 | |
| 633 C→T | A211A | CARD2 | 0 | 1 | 0 | |
| Exon 4: | ||||||
| 703 C→T | R235C | 1 | 0 | 0 | ||
| 743 T→G | L248R | 1 | 0 | 0 | ||
| 802 C→T | P268S | SNP5 | 375 (41) | 77 (24) | 57 (28) | |
| 866 A→G | N289S | NBD | 6 | 0 | 3 | |
| 871 G→A | D291N | NBD | 1 | 0 | 0 | |
| 881 C→G | T294S | NBD | 1 | 0 | 0 | |
| 902 C→T | A301V | NBD (P Loop) | 1 | 0 | 0 | |
| 931 C→T | R311W | NBD | 2 | 1 | 0 | |
| 1042 C→G | L348V | NBD | 1 | 0 | 0 | |
| 1055 A→G | H352R | NBD | 2 | 0 | 0 | |
| 1117 C→T | R373C | NBD | 1 | 0 | 0 | |
| 1241 A→G | N414S | NBD | 1 | 0 | 0 | |
| 1281 G→A | P427P | NBD | 2 | 0 | 0 | |
| 1292 C→T | S431L | NBD | 1 | 0 | 0 | |
| 1295 C→T | A432V | NBD | 1 | 0 | 0 | |
| 1321 G→A | E441K | NBD | 1 | 0 | 0 | |
| 1366 C→T | L456L | NBD | 0 | 0 | 1 | |
| 1377 C→T | R459R | SNP6 | NBD | 379 (42) | 76 (24) | 59 (29) |
| 1509 G→A | E503E | NBD | 0 | 1 | 0 | |
| 1581 C→G | P527P | NBD | 0 | 1 | 0 | |
| 1671 delCCTGGG | 558delLG | NBD | 1 | 0 | 0 | |
| 1761 T→G | R587R | SNP7 | 301 (33) | 142 (45) | 83 (40) | |
| 1788 G→A | T596T | 1 | 0 | 0 | ||
| 1833 C→T | A611A | 3 | 6 | 5 | ||
| 1834 G→A | A612T | 1 | 0 | 0 | ||
| 1835 C→T | A612V | 2 | 0 | 0 | ||
| 2050 C→T | R684W | 1 | 0 | 0 | ||
| 2104 C→T | R702W | SNP8 | 98 (11) | 10 (3) | 9 (4) | |
| 2107 C→T | R703C | 11 | 1 | 0 | ||
| 2137 C→T | R713C | 1 | 0 | 0 | ||
| 2174 C→G | A725G | 3 | 0 | 0 | ||
| 2220 C→T | I740I | 1 | 0 | 0 | ||
| 2264 C→T | A755V | LRR1 | 11 | 1 | 0 | |
| 2273 C→T | A758V | LRR1 | 1 | 0 | 0 | |
| 2332 G→A | E778K | LRR2 | 3 | 0 | 0 | |
| 2377 G→A | V793M | LRR2 | 4 | 0 | 0 | |
| IVS4: | ||||||
| IVS4+10 A→C | Unknown | 14 | 0 | 0 | ||
| Exon 5: | ||||||
| 2527 G→A | E843K | LRR4 | 1 | 0 | 0 | |
| Exon 6: | ||||||
| 2558 A→G | N853S | LRR5 | 2 | 0 | 0 | |
| 2587 A→G | M863V | LRR5 | 4 | 0 | 0 | |
| 2619 C→T | F873F | LRR5 | 1 | 0 | 0 | |
| 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.