| Mutation type:Point | Mutation effect:Missense | Nucleotide number:811 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.3452 | Alpha missense prediction class:ambiguous | ||||
| 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 | 57.3 | 41.5 | 63.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 57.3 | 41.5 | 63.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 57.3 | 41.5 | 63.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 57.3 | 41.5 | 63.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 57.3 | 41.5 | 63.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 57.3 | 41.5 | 63.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | NA | 59 | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 8 | M | 31 | hetero | 40 | NA | 65 | I | Other VTE (30, recurrent) | 30 | Japan | CVT (Other VTE); heparin, anticoagulation therapy | PMID: 30487363 |
| 9 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 10 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:812 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.2408 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 31 | hetero | 134 | 112 | 175 | IIb | asymptomatic | 31 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 96 | 57 | 90 | II | NA | NA | France | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:386; 811 | |||
| Genome location:Exon5; Exon9 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.0861; 0.3452 | Alpha missense prediction class:benign; ambiguous | ||||
| 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 | 70 | 32 | 75 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 7482420 |