| Mutation type:Point | Mutation effect:Missense | Nucleotide number:892 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.3557 | Alpha missense prediction class:ambiguous | ||||
| 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 | NA | 35 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 5 | NA | NA | hetero | 59 | NA | 76 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:893 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 13 | |||||
| Patient information: Monoallelic variation (13); 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 | 48.5 | 44.5 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 48.5 | 44.5 | 48.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |