| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1099 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1173 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 8 | |||||
| Patient information: Monoallelic variation (8); 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 | M | NA | hetero | NA | NA | NA | I | NA | NA | China | NA | PMID: 37789321 |
| 3 | NA | NA | hetero | 61.7 | 63 | 61.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 61.7 | 63 | 61.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 61.7 | 63 | 61.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 61.7 | 63 | 61.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 61.7 | 63 | 61.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 51-56 | NA | NA | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1100 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.3211 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 7 | |||||
| Patient information: Monoallelic variation (7); 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 | M | NA | hetero | NA | 40 | 60 | I | asymptomatic | NA | Hungary | NA | PMID: 11091192 |
| 2 | M | NA | hetero | NA | 68 | 70 | I | DVT (15, 16, 20), stroke (41) | 15 | Hungary | NA | PMID: 11091192 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Germany | NA | PMID: 7482420; PMID: 7841324 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Germany | NA | PMID: 7482420; PMID: 7841324 |
| 5 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Germany | NA | PMID: 7482420; PMID: 7841324 |
| 6 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Germany | NA | PMID: 7482420; PMID: 7841324 |
| 7 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Germany | NA | PMID: 7482420; PMID: 7841324 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:1101 | |||
| Genome location:Exon9 | Subdomain: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 | NA | hetero | NA | 50 | 54 | NA | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1100; 1100 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.3211; 0.3211 | 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 | homo | NA | <1 | <2 | I | PF | 0-1Y | Germany | consanguineous marriage | PMID: 7482420; PMID: 7841324 |
| 2 | NA | NA | homo | NA | <10 | NA | I | PF | 0-1Y | Germany | NA | PMID: 7482420; PMID: 7841324 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:437; 1101 | |||
| Genome location:Exon6; Exon9 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:0.6173 | 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 | M | NA | c.hetero | NA | 54 | 45 | I | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 1099 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.1173 | Alpha missense prediction class: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 | M | 27 | c.hetero | NA | NA | PC defect | I | PE (21); DVT (23) | 21 | China | NA | PMID: 37789321 |