Human BRCA PLP variants in 100 vertebrates.
| BRCA1 | BRCA2 | Total (%) | |
|---|---|---|---|
| A. Human BRCA PLP used in the study | |||
| Total | 2,972 | 3,652 | 6,624 |
| Pathogenic | 2,767 | 3,396 | 6,163 |
| Likely pathogenic | 110 | 155 | 265 |
| Pathogenic/likely pathogenic | 95 | 101 | 196 |
| Types of mutation | |||
| Frameshift deletion | 1,250 | 1,676 | 2,926 (44.2) |
| Stopgain/nonsense | 655 | 851 | 1,506 (22.7) |
| Frameshift insertion | 622 | 738 | 1,360 (20.5) |
| Splice site | 176 | 190 | 366 (5.5) |
| Nonsynonymous SNV | 116 | 47 | 163 (2.5) |
| Frameshift substitution | 88 | 114 | 202 (3.1) |
| Intron variant | 48 | 18 | 66 (1.0) |
| Nonframeshift deletion | 10 | 12 | 22 (0.3) |
| Nonframeshift substitution | 6 | 5 | 11 (0.2) |
| 5′/3′ UTR | 1 | 1 | 2 (0.03) |
| B. Human BRCA PLP shared with other species | |||
| Shared mutation | 172 (5.8) | 312 (8.6) | 484 (7.3) |
| Types of shared mutation | |||
| Stopgain/nonsense | 156 | 280 | 436 (6.6) |
| Splice site | 6 | 17 | 23 (0.3) |
| Nonsynonymous SNV | 5 | 8 | 13 (0.2) |
| Intron variant | 5 | 7 | 12 (0.2) |
| Frameshift deletion | — | — | — |
| Frameshift insertion | — | — | — |
| Nonframeshift deletion | — | — | — |
| 5′/3′ UTR | — | — | — |
| C. Number of species sharing human BRCA PLP | |||
| 1 | 68 (39.5) | 130 (41.6) | 198 (40.9) |
| 2 | 24 | 40 | 65 |
| 3 | 14 | 36 | 50 |
| 4 | 7 | 18 | 25 |
| 5 | 19 | 15 | 34 |
| 6 | 6 | 12 | 18 |
| 7 | 8 | 8 | 16 |
| 8 | 3 | 5 | 8 |
| 9 | 2 | 4 | 6 |
| 10 | 2 | 4 | 6 |
| 11 | 4 | 1 | 5 |
| 12 | 2 | 2 | 4 |
| 13 | 1 | 4 | 5 |
| 14 | 1 | 3 | 4 |
| 15 | 3 | 5 | 8 |
| 16 | 2 | 5 | 7 |
| 17 | 3 | 2 | 5 |
| 18 | 2 | 6 | 8 |
| 19 | 1 | 2 | 4 |
| 20 | — | 4 | 4 |
| 21 | — | 2 | 2 |
| 22 | — | — | — |
| 23 | — | — | — |
| 24 | — | — | — |
| 25 | — | 1 | 1 |
| 26–33 | — | — | — |
| 34 | — | 1 | 1 |
| 35 | — | — | — |
| 36 | — | 1 | 1 |
| 37–56 | — | — | — |
| 57 | — | 1 | 1 |
| 172 (100) | 312 (100) | 484 (100) |