| Mutation type:Point | Mutation effect:Missense | Nucleotide number:982 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.523 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 20 | |||||
| Patient information: Monoallelic variation (20); 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 | 43 | 46 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 48 | 43 | 46 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 40 | 55 | 39 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 5 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | 62 | 54 | I | NA | NA | France | NA | PMID: 7482420 |
| 8 | NA | NA | hetero | 46 | NA | 44 | I | NA | NA | France | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | 59 | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | 33 | 39 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | 15 | I | NA | NA | Denmark | anticoagulation therapy | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 18 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 19 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Denmark | NA | PMID: 7482420 |
| 20 | NA | NA | hetero | NA | NA | 35 | I | NA | NA | Denmark | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:983 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1393 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 23 | |||||
| Patient information: Monoallelic variation (23); 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 | 70 | 66 | I | angina pectoris, AMI, stroke (39) | 39 | Japan | NA | PMID: 8883262 |
| 2 | NA | NA | hetero | 60 | 55 | 48 | I | DVT, PE, stroke (46) | 46 | Japan | NA | PMID: 8883262 |
| 3 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 49.4 | 52.4 | 49.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 18 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 19 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 20 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 21 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420; PMID: 7878626 |
| 22 | NA | NA | hetero | NA | 73 | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 23 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:983; 983 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1393; 0.1393 | 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 | homo | <1 | NA | 3 | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 7482420; PMID: 7878626 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:983; 1218 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1393; 0.8981 | Alpha missense prediction class:benign; 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 | M | NA | c.hetero | 5 | NA | 12 | I | DVT | NA | Korea | NA | PMID: 24162787 |