| Mutation type:Point | Mutation effect:Missense | Nucleotide number:760 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.995 | 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 | 52 | 45 | 50 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 52 | 45 | 50 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 51; 48 | NA | 54 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 4 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 5 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 6 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:761 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9965 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 9 | |||||
| Patient information: Monoallelic variation (9); 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 | 43 | 42 | NA | NA | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 3 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 5 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 6 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 8 | NA | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 9 | NA | NA | hetero | 55 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |