| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1019 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.3146 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 31 | |||||
| Patient information: Monoallelic variation (31); 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 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 46 | 43 | 49 | I | cardiomyopaphy | NA | Japan | NA | PMID: 9840027 |
| 3 | NA | NA | hetero | NA | NA | <69 | I | DVT | NA | Canada | NA | PMID: 9798967 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 5 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Canada | NA | PMID: 9798967 |
| 6 | NA | NA | hetero | 36 | NA | 33 | I | Other VTE (18) | 18 | Italy | thrombosis (Other VTE) | PMID: 8829639 |
| 7 | F | 27 | hetero | 39 | NA | NA | I | Other VTE | 27 | Czech Republic; Slovak Republic | family history of thromboembolic states | PMID: 35626216 |
| 8 | NA | NA | hetero | 42 | 45 | 44.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 42 | 45 | 44.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 42 | 45 | 44.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 42 | 45 | 44.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 42 | 45 | 44.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 42 | 45 | 44.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 42 | 45 | 44.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 42 | 45 | 44.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 42 | 45 | 44.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | 57 | hetero | 33 | NA | 26 | I | Other VTE (45) | 45 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 18 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 19 | NA | 51 | hetero | 26 | 20 | 25 | I | multiple Other VTE (43) | 43 | Spain | NA | PMID: 31254973 |
| 20 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 21 | M | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 22 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 23 | NA | NA | hetero | 46 | NA | 48 | I | NA | NA | UK | NA | PMID: 7482420 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 25 | NA | NA | hetero | NA | 40 | 53 | I | NA | NA | Germany | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | 20 | NA | 20 | I | NA | NA | USA | NA | PMID: 7482420 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 28 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 29 | NA | NA | hetero | NA | 37 | 38 | I | NA | NA | USA | NA | PMID: 7482420 |
| 30 | NA | NA | hetero | NA | 60 | 56 | I | NA | NA | France | NA | PMID: 7482420 |
| 31 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1019 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.956 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | NA | 42 | hetero | NA | NA | NA | I | Other VTE | 42 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1019 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9162 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | NA | NA | hetero | 48-49 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |