| Mutation type:Point | Mutation effect:Missense | Nucleotide number:629 | |||
| Genome location:Exon7 | Subdomain:Activation peptide | ||||
| Alpha missense prediction value:0.1258 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 63 | |||||
| Patient information: Monoallelic variation (63); 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 | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 30 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 31 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 32 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 33 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 34 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 35 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 36 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 37 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 38 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 39 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 40 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 41 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 42 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 43 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 44 | NA | NA | hetero | 57.5 | 56.3 | 50.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 45 | M | 34 | hetero | 74 | 65 | 76 | II | DVT (32, 33) | 32 | Germany | Father with stroke (50-55); prothrombin G20210A mutation | PMID: 32309994 |
| 46 | F | 28 | hetero | 63 (57-60) | NA | 56 (53-59) | I | DVT (26) | 26 | Portugal | Oral contraceptive, long trip | PMID: 25533856 |
| 47 | NA | NA | hetero | 63 (57-60) | NA | 56 (53-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 48 | NA | NA | hetero | 63 (57-60) | NA | 56 (53-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 49 | NA | NA | hetero | 63 (57-60) | NA | 56 (53-59) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 50 | M | 18 | hetero | NA | 48 | 40 | I | asymptomatic | 18 | Korea | NA | PMID: 18573519 |
| 51 | NA | NA | hetero | NA | 60 | 47 | I | NA | NA | France | NA | PMID: 7482420 |
| 52 | NA | NA | hetero | NA | 60 | 59 | I | NA | NA | France | NA | PMID: 7482420 |
| 53 | NA | NA | hetero | 49 | NA | 38 | I | NA | NA | France | NA | PMID: 7482420 |
| 54 | NA | NA | hetero | NA | 63 | 67 | I | NA | NA | France | NA | PMID: 7482420 |
| 55 | NA | NA | hetero | NA | 35 | 46 | I | NA | NA | UK | NA | PMID: 7482420 |
| 56 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 57 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 58 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 59 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 60 | NA | NA | hetero | NA | 55 | 62 | I | NA | NA | USA | NA | PMID: 7482420 |
| 61 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 62 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 63 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:629 | |||
| Genome location:Exon7 | Subdomain:Activation peptide | ||||
| Alpha missense prediction value:0.1853 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 12 | |||||
| Patient information: Monoallelic variation (12); 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 | 64 | NA | 51 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 5 | NA | NA | hetero | 72 | 73 | 34 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 8 | NA | NA | hetero | 53 | 51 | 56 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 11 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:629; 629 | |||
| Genome location:Exon7; Exon7 | Subdomain:Activation peptide; Activation peptide | ||||
| Alpha missense prediction value:0.1258; 0.1258 | Alpha missense prediction class:benign; benign | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | homo | NA | NA | NA | I | Other VTE | 17 | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 1347608 |
| 2 | NA | NA | homo | 15 | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:629; 631 | |||
| Genome location:Exon7; Exon7 | Subdomain:Activation peptide; Activation peptide | ||||
| Alpha missense prediction value:0.1258; 0.1636 | Alpha missense prediction class:benign; 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 | M | 51 | c.hetero | NA | 4 | 13 | I | DVT (17), PE (19) | 17 | Korea | anticoagulation therapy. His mother had DVT. | PMID: 18573519 |