| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1027 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8616 | Alpha missense prediction class:pathogenic | ||||
| 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 | 56.5 | 55.6 | 64.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 56.5 | 55.6 | 64.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | F | 51 | hetero | NA | NA | NA | I | DVT during pregnancy, and died from stroke (51) | NA | France | NA | PMID: 7482420; PMID: 1347608 |
| 11 | M | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420; PMID: 1347608 |
| 12 | M | NA | hetero | NA | NA | NA | I | asymptomatic | NA | France | NA | PMID: 7482420; PMID: 1347608 |
| 13 | M | NA | hetero | NA | NA | NA | I | asymptomatic | NA | France | NA | PMID: 7482420; PMID: 1347608 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1028 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8911 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | 72 | hetero | 74 | 57 | 69 | I | Other VTE | 72 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1028 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9796 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | NA | hetero | 36 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1028 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9636 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 40 | NA | 47 | I | NA | NA | UK | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 7482420 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:1028 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 40 | NA | 47 | I | NA | NA | Italy | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Italy | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Italy | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1027; 1027 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8616; 0.8616 | Alpha missense prediction class:pathogenic; 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 | F | 42 | homo | NA | 23 | 22 | I | Recurrent DVT and Other VTE | 24 | France | thrombosis (Other VTE); anticoagulation therapy | PMID: 7482420; PMID: 1347608 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:118; 1027 | |||
| Genome location:Exon3; Exon9 | Subdomain:Propeptide; Serine protease | ||||
| Alpha missense prediction value:0.1985; 0.8616 | 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 | NA | NA | c.hetero | 18 | NA | NA | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |