| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1333 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.2525 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | 69 | NA | 74 | II | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 2 | NA | NA | hetero | 70 | 69.3 | 70 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 70 | 69.3 | 70 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 70 | 69.3 | 70 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 70 | 69.3 | 70 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 56 | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1335 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.2582 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 13 | |||||
| Patient information: Monoallelic variation (13); 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 | 70 | I | NA | NA | France | NA | PMID: 7482420; PMID: 8128429 |
| 2 | NA | NA | hetero | NA | NA | 70 | I | NA | NA | France | NA | PMID: 7482420; PMID: 8128429 |
| 3 | NA | NA | hetero | NA | NA | 70 | I | NA | NA | France | NA | PMID: 7482420; PMID: 8128429 |
| 4 | NA | NA | hetero | NA | NA | 70 | I | NA | NA | France | NA | PMID: 7482420; PMID: 8128429 |
| 5 | NA | NA | hetero | NA | NA | 45 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | 20 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 7 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 8 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:352; 1333 | |||
| Genome location:Exon5; Exon9 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.9473; 0.2525 | Alpha missense prediction class:pathogenic; 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; 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 |