Table 2.
Mutations of ADAMTS13 found in patients included in this study and their functional annotations
| DNA | Location | Predicted effect | Domain | Polyphen 2 | SIFT | Reference |
|---|---|---|---|---|---|---|
| Splicing mutations | ||||||
| c.106-1G → C | Int 1 | p.(S36_C37delfs*102) | Novel | |||
| c.1309-?G → A | Int 11 | 36 | ||||
| Indels | ||||||
| c.82dupT | Ex 1 | p.W28Lfs*111 | Signal peptide | 23 | ||
| c.4143dupA | Ex 29 | p.E1382Rfs*6 | CUB-2 | 5 | ||
| c.291_319del | Ex 3 | p.E98Pfs*31 | Metalloprotease | 35 | ||
| c.825-?_?del | Int8_ex8 | 36 | ||||
| c.718_724del | Ex 7 | p.S240Afs*7 | Metalloprotease | 24 | ||
| c.2930_2935del | Ex 23 | p.C977_R979delinsW | TSP1-6 | 28 | ||
| c.3254-3255del | Ex 25 | p.S1085Cfs*12 | TSP1-8 | 36 | ||
| Nonsense | ||||||
| c.2728C → T | Ex 21 | p.R910* | TSP1-5 | 5 | ||
| c.3047G → A | Ex 24 | p.W1016* | TSP1-7 | 23 | ||
| c.3616C → T | Ex 26 | p.R1206* | CUB-1 | 8 | ||
| Missense | ||||||
| c.237C → G | Ex 3 | p.I79M | Metalloprotease | Ben | Tolerated | 36 |
| c.262G → A | Ex 3 | p.V88M | Metalloprotease | Prod | Affect | 27 |
| c.304C → T | Ex 3 | p.R102C | Metalloprotease | Prod | Tolerated | 2 |
| c.428T → C | Ex 5 | p.I143T | Metalloprotease | Prod | Affect | Novel |
| c.448T → C | Ex 5 | p.S150P | Metalloprotease | Prod | Affect | Novel |
| c.578G → A | Ex 6 | p.R193Q | Metalloprotease | Prod | Affect | Novel |
| c.607T → C | Ex 6 | p.S203P | Metalloprotease | Prod | Tolerated | 36 |
| c.703G → T | Ex 7 | p.D235Y | Metalloprotease | Prod | Affect | Novel |
| c.706G → T | Ex 7 | p.G236C | Metalloprotease | Prod | Affect | Novel |
| c.803G → C | Ex 7 | p.R268P | Metalloprotease | Ben | Tolerated | 3 |
| c.1308G → C | Ex 11 | p.Q436H | TSP1-1 | Prod | Tolerated | Novel |
| c.1520G → A | Ex 13 | p.R507Q | Cysteine-rich | Prod | Tolerated | 36 |
| c.1787C → T | Ex 16 | p.A596V | Spacer | Prod | Tolerated | 36 |
| c.2272T → C | Ex 19 | p.C758R | TSP1-3 | Prod | Affect | 36 |
| c.3178C → T | Ex 24 | p.R1060W | TSP1-7 | Prod | Affect | 25 |
| c.3251G → A | Ex 25 | p.C1084Y | TSP1-8 | Prod | Affect | Novel |
| c.3283C → T | Ex 25 | p.R1095W | TSP1-8 | Prod | Affect | Novel |
| c.3367C → T | Ex 25 | p.R1123C | TSP1-8 | Prod | Affect | 23 |
| c.3716G → T | Ex 27 | p.G1239V | CUB-1 | Prod | Affect | 27 |
None of the mutations was found in the dbSNP131 or 1000 Genomes study databases.
Int indicates intron; Ex, exon; Ben, predicted benign; and Prod, probably damaging.