| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:897 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 16 | |||||
| Patient information: Monoallelic variation (16); 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 | 50.2 | 43.1 | 44.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 50.2 | 43.1 | 44.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 68 | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | 31 | 30 | I | NA | NA | France | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:898 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8485 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | 46.8 | 46.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | NA | 46.8 | 46.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | NA | 46.8 | 46.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | NA | 46.8 | 46.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | NA | 46.8 | 46.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | NA | 46.8 | 46.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |