| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:713 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 5 | |||||
| Patient information: Monoallelic variation (5); 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 | NA | NA | I | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 2 | M | 20 | hetero | NA | NA | 31 | I | multiple PE, multiple DVT (20) | 20 | Korea | NA | PMID: 22588326 |
| 3 | M | NA | hetero | 50 | NA | 42 | I | asymptomatic | NA | Korea | NA | PMID: 15748260 |
| 4 | F | NA | hetero | 41 | NA | 28 | I | asymptomatic | NA | Korea | NA | PMID: 15748260 |
| 5 | F | NA | hetero | 44 | NA | 39 | I | asymptomatic | NA | Korea | NA | PMID: 15748260 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:715 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9315 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 27 | |||||
| Patient information: Monoallelic variation (27); 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 | NA | NA | I | Other VTE (18) | 18 | USA | thrombosis (Other VTE); anticoagulant therapy | PMID: 8972002 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | USA | thrombosis (Other VTE) | PMID: 8972002 |
| 3 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 48.6 | 46.6 | 45.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 27 | M | NA | hetero | 60 (54-68) | NA | 64 (60-70) | I | DVT (56), varicose veins, Other VTE (57) | 56 | Portugal | thrombosis (Other VTE); smoker, and dyslipidemia | PMID: 25533856 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:715 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9315 | 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 | F | 48 | hetero | 56 (49; 56; 57) | NA | NA | NA | Other VTE | 48 | Czech Republic; Slovak Republic | family history of thromboembolic states | PMID: 35626216 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:716 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9631 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 19 | |||||
| Patient information: Monoallelic variation (19); 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 | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 48.9 | 48.9 | 48.1 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | NA | 45 | 40 | I | NA | NA | France | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 17 | NA | NA | hetero | NA | 46 | 48 | I | NA | NA | France | NA | PMID: 7482420 |
| 18 | NA | NA | hetero | NA | 55 | 47 | I | NA | NA | France | NA | PMID: 7482420 |
| 19 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Deletion; Deletion | Mutation effect:Frameshift; Frameshift | Nucleotide number:713; 713 | |||
| Genome location:Exon8; Exon8 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | F | 2D | homo | <1 | NA | <1 | I | PF (2D), OD, DIC | 2D | Korea | congenital blindness (OD); FFP, anticoagulation therapy | PMID: 15748260 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 715 | |||
| Genome location:Exon7; Exon8 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.9315 | Alpha missense prediction class:pathogenic | ||||
| 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 | F | NA | c.hetero | 62 | NA | 55 | I | DVT | NA | Korea | NA | PMID: 24162787 |