ADAMTS13 mutations in 5 USS families
Exon . | Family . | Nucleotide . | Amino acid . |
|---|---|---|---|
| Intron 4 | C, D | 414+1G>A | Splice |
| 5 | F | 420T>C* | Silent |
| 6 | F | 577C>T | R193W |
| Intron 6 | G | 686+1G>A | Splice |
| Intron 10 | F | 1244+2T>G | Splice |
| 12 | F, G | 1342C>G* | Q448E |
| 15 | F, G | 1716G>A* | Silent |
| 17 | D, E | 2017A>T | 1673F |
| 19 | D, E, F, G | 2280C>T* | Silent |
| 21 | E | 2723G>A | C908Y |
| 25 | G | 3367C>T | R1123C |
| 29 | F, G | 4221C>A* | Silent |
Exon . | Family . | Nucleotide . | Amino acid . |
|---|---|---|---|
| Intron 4 | C, D | 414+1G>A | Splice |
| 5 | F | 420T>C* | Silent |
| 6 | F | 577C>T | R193W |
| Intron 6 | G | 686+1G>A | Splice |
| Intron 10 | F | 1244+2T>G | Splice |
| 12 | F, G | 1342C>G* | Q448E |
| 15 | F, G | 1716G>A* | Silent |
| 17 | D, E | 2017A>T | 1673F |
| 19 | D, E, F, G | 2280C>T* | Silent |
| 21 | E | 2723G>A | C908Y |
| 25 | G | 3367C>T | R1123C |
| 29 | F, G | 4221C>A* | Silent |
Reported by Levy et al12 and Kokame et al.18