| Mutation type:Point | Mutation effect:Missense | Nucleotide number:934 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8693 | 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 | NA | hetero | NA | 46 | 40 | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:935 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.2796 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 16 | |||||
| Patient information: Monoallelic variation (16); 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 | NA | hetero | 36 | NA | 52 | I | asymptomatic | NA | Britain | NA | PMID: 10942114 |
| 2 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | 47.2 | 37.5 | 43.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 47.2 | 37.5 | 43.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 47.2 | 37.5 | 43.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 47.2 | 37.5 | 43.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 47.2 | 37.5 | 43.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 47.2 | 37.5 | 43.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | F | 25 | hetero | 45 | NA | 50.3 | I | asymptomatic | 25 | Poland | family history of VTE | PMID: 28607330 |
| 11 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 12 | NA | 44 | hetero | 30.4 | NA | 76.7 | II | DVT | 44 | China | NA | PMID: 22545135 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 14 | F | 57 | hetero | NA | NA | NA | NA | DVT (57), Varicose veins | 57 | China | family history of VTE | PMID: 40221599 |
| 15 | F | 30 | hetero | NA | NA | NA | NA | DVT (30) | 30 | China | Pregnancy. family history of VTE | PMID: 40221599 |
| 16 | M | 38 | hetero | NA | NA | NA | NA | Asymptomatic | 38 | China | family history of VTE | PMID: 40221599 |
| Mutation type:Point; Point | Mutation effect:Silent; Missense | Nucleotide number:678; 935 | |||
| Genome location:Exon7; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.2796 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| 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 | c.hetero | NA | NA | NA | I | Other VTE | NA | USA | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Exon deletion | Nucleotide number:935; NA | |||
| Genome location:Exon9; NA | Subdomain:Serine protease; NA | ||||
| Alpha missense prediction value:0.2796 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| 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 | c.hetero | 1 | NA | 29 | I | PF (neonatal, deceased) | 0-1y | Britain | NA | PMID: 10942114 |