Summary of N34S mutations identified
| Families (individuals) | Affected individuals (families) | Unaffected individuals (families) | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Population | Total | N34S | wt-N34 | Total | N34S | wt-N34 | Total | N34S | wt-N34 |
| ICP, idiopathic chronic pancreatitis; t-ICP, true idiopathic chronic pancreatitis; f-ICP, familial idiopathic chronic pancreatitis; HP, hereditary pancreatitis; ACP, alcohol related chronic pancreatitis; mt, mutant; wt, wild-type. | |||||||||
| Total population | 417 (527) | 27 (42) 6% | 390 (485) 94% | 269 (217) | 25 (22) 9% | 244 (198) 91% | 258 (231) | 6 (6) 2% | 252 (225) 98% |
| All ICP | 91 (108) | 15 (27) 16% | 76 (81) 84% | 94 (91) | 17 (15) 18% | 77 (78) 82% | 14 (4) | 1 (1) 7% | 13 (4) 93% |
| t-ICP | 87 (92) | 11 (11) 13% | 76 (81) 87% | 87 (87) | 11 (11) 13% | 76 (76) 87% | 5 (3) | 0 (0) 0% | 5 (3) 100% |
| f-ICP | 4 (16) | 4 (16) 100% | 0 0% | 7 (4) | 6 (4) 86% | 1 (2) 14% | 9 (1) | 1 (1) 11% | 8 (1) 89% |
| All HP | 59 (152) | 3 (6) 5% | 56 (146) 95% | 108 (59) | 4 (3) 4% | 104 (57) 96% | 44 (27) | 0 (0) 0% | 44 (27) 100% |
| mt-PRSS1 | 45 (117) | 1 (2) 2% | 44 (115) 98% | 81 (45) | 1 (1) 1% | 80 (44) 99% | 36 (22) | 0 (0) 0% | 36 (22) 100% |
| wt-PRSS1 | 14 (35) | 2 (4) 14% | 12 (31) 86% | 27 (14) | 3 (2) 11% | 24 (13) 89% | 8 (5) | 0 (0) 0% | 8 (5) 100% |
| All familial | |||||||||
| HP+f-ICP | 63 (168) | 7 (22) 11% | 56 (146) 89% | 115 (63) | 10 (7) 9% | 105 (59) 91% | 53 (28) | 1 (1) 2% | 52 (28) 98% |
| wt-PRSS1 | 18 (51) | 6 (20) 33% | 12 (31) 67% | 34 (18) | 9 (6) 26% | 25 (15) 74% | 17 (6) | 1 (1) 6% | 16 (6) 94% |
| ACP | 67 (67) | 4 (4) 6% | 63 (63) 94% | 67 (67) | 4 (4) 6% | 63 (63) 94% | 0 (0) | 0 (0) 0% | 0 (0) 0% |
| Controls | 200 (200) | 5 (5) 2.5% | 195 (195) 97.5% | N/A | N/A | N/A | 200 (200) | 5 (5) 2.5% | 195 (195) 97.5% |