| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1106 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1872 | Alpha missense prediction class:benign | ||||
| 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 | F | 43 | hetero | 48 | NA | NA | I | Other VTE | 43 | Czech Republic; Slovak Republic | NA | PMID: 35626216 |
| 2 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 51.6 | 57.2 | 49 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | NA | 75 | 62 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 18 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 19 | F | 45 | hetero | NA | NA | NA | I | DVT (20, 34), varicose veins | 20 | Portugal | PROCR c.4600 A>G. Pregnancy | PMID: 25533856 |
| 20 | NA | NA | hetero | NA | 63 | 61 | I | NA | NA | France | NA | PMID: 7482420 |
| 21 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 22 | NA | NA | hetero | NA | NA | 21 | I | NA | NA | Denmark | anticoagulation therapy | PMID: 7482420 |
| 23 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 25 | NA | NA | hetero | 52 | 51 | 45 | I | NA | NA | Japan | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:1106 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); 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 | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point; Point | Mutation effect:Missense; Silent | Nucleotide number:962; 1107 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.7329 | 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 | NA | NA | c.hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |