| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1301 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8548 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | F | 50 | hetero | 69.5 | NA | NA | II | Other VTE | 50 | Czech Republic; Slovak Republic | family history of thromboembolic states | PMID: 35626216 |
| 2 | F | 41 | hetero | 60.7 | NA | NA | II | Other VTE (40) | 40 | Poland | PVT (Other VTE) | PMID: 28607330 |
| 3 | F | 33 | hetero | 56 | NA | 82.4 | II | DVT (33), recurrence Other VTE | 33 | Poland | family history of VTE, Oral contraceptives | PMID: 28607330 |