| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:535 | |||
| Genome location:Intron6_Exon8 | Subdomain:Linker; Activation peptide; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 36 | hetero | 38 | NA | 35 | I | DVT during pregnancy (35), miscarriage. | 35 | Japan | miscarriage (abortion surgery). heparin, thrombin inhibitor (argatroban) and activated factor X inhibitor (apixaban). | PMID: 32199175 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:793 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.3365 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 53 | |||||
| Patient information: Monoallelic variation (53); 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 5 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 30 | NA | NA | hetero | 48.6 | 50.4 | 48.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 31 | M | NA | hetero | 62 | NA | NA | I | asymptomatic | NA | France | NA | PMID: 14707701 |
| 32 | NA | NA | hetero | NA | NA | 61 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 33 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 34 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 35 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 36 | NA | NA | hetero | 23 | NA | 27 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 37 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 38 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 39 | NA | NA | hetero | NA | NA | 24 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 40 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 41 | NA | NA | hetero | NA | 68 | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 42 | NA | NA | hetero | NA | 45 | 54 | I | NA | NA | France | NA | PMID: 7482420 |
| 43 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 44 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 45 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 46 | NA | NA | hetero | NA | NA | <60 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 8128429 |
| 47 | NA | NA | hetero | NA | NA | <60 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 8128429 |
| 48 | NA | NA | hetero | NA | NA | <60 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 8128429 |
| 49 | NA | NA | hetero | NA | 28 | 40 | I | NA | NA | France | NA | PMID: 7482420 |
| 50 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 51 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 52 | NA | NA | hetero | 45 | 29 | 50 | I | NA | NA | France | NA | PMID: 7482420 |
| 53 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:127; 793 | |||
| Genome location:Exon3; Exon8 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.1596; 0.3365 | 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 | NA | NA | c.hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:793; 1266 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.3365; 0.9949 | Alpha missense prediction class:benign; pathogenic | ||||
| 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 | F | NA | c.hetero | NA | <5 | NA | I | BD (6D) | 6D | Japan | ICTH (BD) | PMID: 28111891 |
| 2 | F | NA | c.hetero | NA | <5 | NA | I | BD (6D) | 6D | Japan | ICTH (BD) | PMID: 28111891 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:793; 1335 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.3365; 0.2582 | 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 | c.hetero | NA | 26 | 16 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 8128429 |
| 2 | NA | NA | c.hetero | NA | NA | 25 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 8128429 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:793; 925 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.3365; 0.1348 | 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 | F | 12 | c.hetero | 6 | 6 | 6 | I | multiple DVT (12), Other VTE | 12 | France | thrombosis (Other VTE); LMWH, Fraxiparin | PMID: 14707701 |