Table 4. Number of deletions and insertions collected from the Human Gene Mutation Database and the 1000 Genomes Project and used for validation of PROVEAN.
HGMD | 1000 Genomes | |||
Length (in AA) | Deletion | Insertion | Deletion | Insertion |
1 | 1103 | 174 | 1007 | 311 |
2 | 185 | 75 | 103 | 71 |
3 | 164 | 64 | 59 | 28 |
4 | 105 | 28 | 58 | 9 |
5 | 73 | 31 | 25 | 3 |
6 | 79 | 32 | 17 | 5 |
Total | 1709 | 404 | 1269 | 427 |