| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1240 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.6987 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 8 | |||||
| Patient information: Monoallelic variation (8); 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | 52.4 | 49 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 52.4 | 49 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 52.4 | 49 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 52.4 | 49 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 52.4 | 49 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1242 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8326 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 49.5 | 45 | 50.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 49.5 | 45 | 50.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 49.5 | 45 | 50.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:1242 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 10 | |||||
| Patient information: Monoallelic variation (10); 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 | M | 40 | hetero | 49 | NA | 43.2 | I | DVT (39, 40) | 39 | China | NA | PMID: 22951146 |
| 2 | F | NA | hetero | NA | NA | NA | I | DVT | NA | China | NA | PMID: 22951146 |
| 3 | M | 40 | hetero | NA | 49 | 31.27 | I | recurrent DVT | 40 | China | NA | PMID: 17454772 |
| 4 | M | NA | hetero | NA | 41 | 44.1 | I | asymptomatic | NA | China | NA | PMID: 17454772 |
| 5 | F | NA | hetero | NA | 41 | 36.4 | I | asymptomatic | NA | China | NA | PMID: 17454772 |
| 6 | F | NA | hetero | NA | 53 | 41.07 | I | asymptomatic | NA | China | NA | PMID: 17454772 |
| 7 | F | NA | hetero | NA | 41 | 48.07 | I | asymptomatic | NA | China | NA | PMID: 17454772 |
| 8 | M | NA | hetero | NA | 51 | 32.9 | I | asymptomatic | NA | China | NA | PMID: 17454772 |
| 9 | F | NA | hetero | NA | 67 | 43.64 | I | asymptomatic | NA | China | NA | PMID: 17454772 |
| 10 | M | NA | hetero | NA | 44 | 38.5 | I | asymptomatic | NA | China | NA | PMID: 17454772 |