Table 2.
Statistical assessment of the disease-association of the detected TMPRSS3 mutations using ISVS Simulator.
| Mutation | BAM/all | #pat/#non-pat | SVM LR | Second mutations found in patients | |
|---|---|---|---|---|---|
| Observed | Cumulat. | ||||
| p.H70Tfs*19 | 20/23 | 92/0 | 929/0 | 107 | p.A138E (7), p.M448T (4), p.H70Tfs*19 (3), p.C194Mfs*17 (3), wt (3), p.S124L (1), c.953-5 A > G (1), p.D334Mfs*24 (1) |
| p.A138E | 16/19 | 349/0 | 1076/0 | 107 | p.H70Tfs*19 (7), wt (3), p.A138E (2), p.C73Y (1), p.R109W (1), p.S124L (1), p.C194Mfs*17 (1), c.953-5 A > G (1), p.D334Mfs*24 (1), p.M448T (1) |
| p.M448T^ | 10/10 | 361/0 | 2599/0 | 107 | p.H70Tfs*19 (4), c.953-5 A > G (2), p.S124L (1), p.A138E (1), c.782 + 2 T > A (1), p.A426T (1), |
| p.S124L^ | 4/5 | 1689/0 | 1689/0 | 1390 | p.H70Tfs*19 (1), p.A138E (1), p. L325Q (1), p.M448T (1), wt (1) |
| p.C194Mfs*17^ | 4/4 | 2204/1 | 2204/1 | 7126 | p.H70Tfs*19 (3), p.A138E (1) |
| c.953-5 A > G^ | 4/4 | 2204/1 | 2204/1 | 7126 | p.M448T (2), p.H70Tfs*19 (1), p.A138E (1) |
| p.R109W | 2/2 | 4709/57 = 82 | 4709/57 = 82 | 90 | p.A138E (1), p.R436G (1) |
| p.D334Mfs*24^ | 2/2 | 4709/57 = 82 | 4709/57 = 82 | 90 | p.H70Tfs*19 (1), p.A138E (1) |
| p.L325Q^ | 1/1 | 7429/655 = 11 | 7429/655 = 11 | 10 | p.S124L (1) |
| p.R436G^ | 1/1 | 7429/655 = 11 | 7429/655 = 11 | 10 | p.R109W (1) |
| p.A426T | 1/1 | 7429/655 = 11 | 7429/655 = 11 | 10 | p.M448T (1) |
| c.782 + 2 T > A^ | 1/1 | 7429/655 = 11 | 7429/655 = 11 | 10 | p.M448T (1) |
| p.C73Y^ | 1/1 | 7429/655 = 11 | 7429/655 = 11 | 10 | p.A138E (1) |
BAM/all– number with bi-allelic mutations/total number with given mutation. in brackets - number of patients with a given mutation. The settings for ISVS Simulator: number of patients = 2 200; disease prevalence 1/1000; fraction of disease cases explained by mutation in the gene: 0.02; Number of iterations: 10 000; Number of pathogenic mutations: 10; Number of non-pathogenic mutations: 20; Cumulative frequency of non-pathogenic variants: 0.05.