| Mutation type:Point | Mutation effect:Missense | Nucleotide number:997 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0812 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 7 | |||||
| Patient information: Monoallelic variation (7); 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 | 39 | hetero | 35 | NA | 45 | I | DVT, Other VTE (39), BD following thrombolytic therapy (deceased), SLE | 39 | China | CVT (Other VTE), ICH (BD) | PMID: 37950050 |
| 2 | M | NA | hetero | NA | NA | NA | I | Other VTE (deceased) | NA | China | CVT (Other VTE) | PMID: 37950050 |
| 3 | M | NA | hetero | NA | NA | NA | I | PE (deceased) | NA | China | NA | PMID: 37950050 |
| 4 | F | 39 | hetero | 35 | NA | 45 | I | DVT (39), Other VTE, SLE | 39 | China | CVT (Other VTE); Father died of CVST, brother died of PE | PMID: 35231991 |
| 5 | F | 39 | hetero | 39 | NA | 45 | I | DVT (34), SLE, Other VTE and stroke, miscarriage, ICH (thrombolytic therapy with urokinase) | 34 | China | CVT (Other VTE); father died of CVST (47). Her brother died of PE (44). Urokinase, anticoagulation therapy | PMID: 30439769 |
| 6 | F | 41 | hetero | 56 | NA | 57 | I | asymptomatic | 41 | China | NA | PMID: 30439769 |
| 7 | M | 14 | hetero | 57 | NA | 58 | I | asymptomatic | 14 | China | NA | PMID: 30439769 |