| Mutation type:Point | Mutation effect:Missense | Nucleotide number:667 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.3318 | Alpha missense prediction class:benign | ||||
| 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 | 46.3 | 45 | 51.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 46.3 | 45 | 51.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:669 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9708 | 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 | 48 | hetero | 60 | NA | 88.1 | II | DVT | 48 | China | NA | PMID: 22545135 |