FXI common mutations presented by apple domain
| Mutation . | Bleeding phenotype? . | Reference . |
|---|---|---|
| A1 domain | ||
| Cys38Arg | No | 39,40 |
| Cys28Phe | Yes | 41,42 |
| A2 domain | ||
| Glu117∗ | Yes | 37,43,44 |
| His127Arg | No | 37,44 |
| A3 domain | ||
| Gln226Arg | No | 44-46 |
| Ala181Val | Unclear | 37,44 |
| A4 domain | ||
| Phe283Leu | Yes | 37,43,47,48 |
| Gly350Arg, Gly350Ala, and Gly350Glu | Yes | 37 |
| Tyr351Ser and Tyr369∗ | Yes | 49 |
| Serine protease domain | ||
| Pro520Leu | Yes | 37,40,41,44 |
| Ala412Thr, Ala412Ser, and Ala430Val | Yes | 37,50 |
| Mutation . | Bleeding phenotype? . | Reference . |
|---|---|---|
| A1 domain | ||
| Cys38Arg | No | 39,40 |
| Cys28Phe | Yes | 41,42 |
| A2 domain | ||
| Glu117∗ | Yes | 37,43,44 |
| His127Arg | No | 37,44 |
| A3 domain | ||
| Gln226Arg | No | 44-46 |
| Ala181Val | Unclear | 37,44 |
| A4 domain | ||
| Phe283Leu | Yes | 37,43,47,48 |
| Gly350Arg, Gly350Ala, and Gly350Glu | Yes | 37 |
| Tyr351Ser and Tyr369∗ | Yes | 49 |
| Serine protease domain | ||
| Pro520Leu | Yes | 37,40,41,44 |
| Ala412Thr, Ala412Ser, and Ala430Val | Yes | 37,50 |