| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1000 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1401 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 32 | |||||
| Patient information: Monoallelic variation (32); 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 | 42 | NA | 37 | I | Other VTE | NA | USA | thrombosis (Other VTE). FVL, surgery | PMID: 8972002 |
| 2 | NA | NA | hetero | NA | NA | NA | I | PE (died) | NA | USA | NA | PMID: 8972002 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | USA | NA | PMID: 8972002 |
| 4 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 49.8 | 42 | 48.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | M | NA | hetero | 55 | NA | 58 | I | Other VTE (53) | 53 | Denmark | FVL | PMID: 31821907 |
| 18 | NA | NA | hetero | 53 | NA | 55 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 19 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 20 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 21 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 22 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 23 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 25 | NA | NA | hetero | NA | 58 | 55 | I | NA | NA | France | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 27 | NA | NA | hetero | NA | 48 | 42 | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 28 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 29 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 30 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 31 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 32 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1000; 1000 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1401; 0.1401 | Alpha missense prediction class:benign; benign | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | homo | NA | 16 | 22 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420 |
| 2 | NA | NA | homo | NA | <5 | <5 | I | Other VTE | NA | Japan | thrombosis (Other VTE) | PMID: 7482420 |