| Mutation type:Duplication | Mutation effect:Inframe | Nucleotide number:340 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| 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 | 50 | I | Other VTE (31) | 31 | USA | thrombosis (Other VTE) | PMID: 8972002 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | USA | NA | PMID: 8972002 |
| 3 | NA | 57 | hetero | 50 | 48 | 44 | I | Other VTE | 57 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:346 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.1897 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 9 | |||||
| Patient information: Monoallelic variation (9); 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 | 56.2 | 52.8 | 54 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 56.2 | 52.8 | 54 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 56.2 | 52.8 | 54 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 56.2 | 52.8 | 54 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 56.2 | 52.8 | 54 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 56.2 | 52.8 | 54 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | M | NA | hetero | NA | NA | NA | I | Other VTE (28), stroke | 28 | Spain | thrombosis (Other VTE), ictus (stroke) | PMID: 31254973 |
| 8 | F | NA | hetero | NA | NA | NA | I | recurrent miscarriage | NA | Spain | NA | PMID: 31254973 |
| 9 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:346 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.097 | Alpha missense prediction class:benign | ||||
| 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 | M | NA | hetero | 73 | 34 | 77 | II | Other VTE | NA | China | NA | PMID: 28405673 |
| 2 | M | NA | hetero | 72 | 36 | 80 | II | DVT | NA | China | NA | PMID: 28405673 |
| 3 | M | NA | hetero | 90 | 82 | 87 | II | asymptomatic | NA | China | NA | PMID: 28405673 |
| Mutation type:Point; Point | Mutation effect:Missense; Splice | Nucleotide number:346; 400 | |||
| Genome location:Exon5; Intron5 | Subdomain:EGF1; NA | ||||
| Alpha missense prediction value:0.1897 | 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 | NA | 40 | c.hetero | NA | 24 | 24 | I | Other VTE (28), stroke | 28 | Spain | thrombosis (Other VTE) | PMID: 31254973 |