| Mutation type:Point | Mutation effect:Missense | Nucleotide number:757 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9453 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); Biallelic variation (0) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | NA | hetero | Normal | NA | Normal | NA | asymptomatic | NA | India | NA | PMID: 27889735 |
| 2 | M | NA | hetero | 55 | NA | 79 | NA | asymptomatic | NA | India | NA | PMID: 27889735 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:759 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9805 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 20 | |||||
| Patient information: Monoallelic variation (20); Biallelic variation (0) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 33 | hetero | 54 | NA | NA | II | Other VTE | 33 | Czech Republic; Slovak Republic | family history of thromboembolic states | PMID: 35626216 |
| 2 | M | 54 | hetero | 65 | 56 | 118 | II | DVT (50) | 50 | Poland | Dabigatran | PMID: 35627118 |
| 3 | F | 44 | hetero | 56 | NA | NA | II | DVT (37) | 37 | Poland | medicine history: Sulodexid | PMID: 35627118 |
| 4 | F | 35 | hetero | 68 | 64 | 139 | IIa | DVT, BD (33) | 33 | Poland | cesarean section complicated with hemorrhage (BD); Dabigatran, family history of VTE | PMID: 35627118 |
| 5 | M | 52 | hetero | 68 | 59 | 54 | II | DVT (47, recurrent) | 47 | Poland | Rivaroxaban | PMID: 35627118 |
| 6 | M | 63 | hetero | 58 | 45 | 113 | II | DVT (62); PE | 62 | Poland | Rivaroxaban | PMID: 35627118 |
| 7 | NA | NA | hetero | 38 | 46.7 | 99 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 38 | 46.7 | 99 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 38 | 46.7 | 99 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | F | 54 | hetero | 54 | NA | NA | II | DVT, PE (45), Other VTE | 45 | Poland | NA | PMID: 28607330 |
| 11 | F | 65 | hetero | 66.9 | NA | NA | II | Other VTE (62), Other VTE | 62 | Poland | CVT (Other VTE) | PMID: 28607330 |
| 12 | NA | NA | hetero | NA | 43 | 146 | II | NA | NA | Austria | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Austria | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Austria | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Austria | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Austria | NA | PMID: 7482420 |
| 17 | NA | NA | hetero | NA | 50 | >100 | II | NA | NA | Germany | NA | PMID: 7482420 |
| 18 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Germany | NA | PMID: 7482420 |
| 19 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Germany | NA | PMID: 7482420 |
| 20 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Germany | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:757; 757 | |||
| Genome location:Exon8; Exon8 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.9453; 0.9453 | Alpha missense prediction class:pathogenic; pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 4d | homo | 11 | NA | 12.28 | I | PF (2D), OD, DIC (4D) | 2D | India | congenital blindness (OD); FFP, LMWH, anticoagulation therapy. consanguineous marriage | PMID: 27889735 |