| Mutation type:Point | Mutation effect:Missense | Nucleotide number:796 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9672 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 56 | 54 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 46 | 56 | 54 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 48 | NA | 23 | I | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 4 | NA | NA | hetero | 54.8 | NA | NA | I | DVT | NA | China | NA | PMID: 24028705 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:797 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9647 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 44.8 | 39.2 | 42 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 44.8 | 39.2 | 42 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 44.8 | 39.2 | 42 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 44.8 | 39.2 | 42 | I | asymptomatic | NA | France | NA | PMID: 32717757 |