Amino acid changes in the ADAMTS13 gene in aHUS patients with reduced ADAMTS13 activity
| Patient ID . | ADAMTS13 . | Complement . | ADAMTS13 activity . | |
|---|---|---|---|---|
| FRETS-VWF73 . | VWF-A2 . | |||
| MA-3 | A900V | 57% | 52% | |
| MA-6 | A900V | C3- P63L | 36% | 80% |
| MA-7 | CFH-E1195X | 47% | 87% | |
| MA-8 | Q448E | CFH/CFHR1 fusion protein | 45% | 43% |
| MA-9 | Q448E | CFH autoantibodies (1:600) | 70% | 52% |
| MA-13 | A747V | 39% | 35% | |
| R1096H | ||||
| MA-15 | THBD-D486Y | 35% | 54% | |
| MA-16 | A900V | CFH-E1071fsX1089 | 54% | 91% |
| MA-17 | R7W | 41% | 78% | |
| Q448E | ||||
| A900V | ||||
| P618A | ||||
| MA-20 | CFH-S1191L | 60% | 48% | |
| MA-21 | R7W | 84% | 48% | |
| Q448E | ||||
| P618A | ||||
| A732V | ||||
| MA-23 | R7W | CFB-E556A | 59% | 74% |
| Q448E | ||||
| P618A | ||||
| MA-25 | CFI-G119R | 83% | 41% | |
| CFI-G287R | ||||
| THBD-P501T | ||||
| MA-27 | V832M | CFB-F286L | 54% | 37% |
| MA-28 | Q448E | THBD-D486Y | 86% | 57% |
| A900V | ||||
| Patient ID . | ADAMTS13 . | Complement . | ADAMTS13 activity . | |
|---|---|---|---|---|
| FRETS-VWF73 . | VWF-A2 . | |||
| MA-3 | A900V | 57% | 52% | |
| MA-6 | A900V | C3- P63L | 36% | 80% |
| MA-7 | CFH-E1195X | 47% | 87% | |
| MA-8 | Q448E | CFH/CFHR1 fusion protein | 45% | 43% |
| MA-9 | Q448E | CFH autoantibodies (1:600) | 70% | 52% |
| MA-13 | A747V | 39% | 35% | |
| R1096H | ||||
| MA-15 | THBD-D486Y | 35% | 54% | |
| MA-16 | A900V | CFH-E1071fsX1089 | 54% | 91% |
| MA-17 | R7W | 41% | 78% | |
| Q448E | ||||
| A900V | ||||
| P618A | ||||
| MA-20 | CFH-S1191L | 60% | 48% | |
| MA-21 | R7W | 84% | 48% | |
| Q448E | ||||
| P618A | ||||
| A732V | ||||
| MA-23 | R7W | CFB-E556A | 59% | 74% |
| Q448E | ||||
| P618A | ||||
| MA-25 | CFI-G119R | 83% | 41% | |
| CFI-G287R | ||||
| THBD-P501T | ||||
| MA-27 | V832M | CFB-F286L | 54% | 37% |
| MA-28 | Q448E | THBD-D486Y | 86% | 57% |
| A900V | ||||
Boldface type denotes ADAMTS13 activity ≤60% of normal.
ID, identification.