| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:520 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 72 | |||||
| Patient information: Monoallelic variation (72); 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 | 39 | NA | 42 | I | Other VTE (11) | 11 | USA | thrombosis (Other VTE); Surgery | PMID: 8972002 |
| 2 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 47.9 | 48.4 | 50.4 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 18 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 19 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 20 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 21 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 22 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 23 | M | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 25 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 28 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 7482420; PMID: 6548587 |
| 29 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 7482420; PMID: 6548587 |
| 30 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 7482420; PMID: 6548587 |
| 31 | NA | NA | hetero | 55 | NA | 45 | I | NA | NA | France | NA | PMID: 7482420 |
| 32 | NA | NA | hetero | NA | NA | 45 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 33 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 34 | NA | NA | hetero | NA | NA | 23 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 35 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 36 | NA | NA | hetero | 55 | NA | 64 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 37 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 38 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 39 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 40 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 41 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 42 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 43 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 44 | NA | NA | hetero | 48 | NA | 29 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 45 | NA | NA | hetero | 32 | NA | 40 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 46 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 47 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 48 | NA | NA | hetero | NA | NA | 15 | I | NA | NA | Netherlands | anticoagulation therapy | PMID: 7482420 |
| 49 | NA | NA | hetero | NA | NA | <10 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 50 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 51 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 52 | NA | NA | hetero | 60 | NA | 70 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 53 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 54 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 55 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 56 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 57 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 58 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 59 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 60 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 61 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 62 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420; PMID: 1868249 |
| 63 | NA | NA | hetero | NA | 39 | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 64 | NA | NA | hetero | 45 | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 65 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 66 | NA | NA | hetero | 43 | NA | 35 | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 67 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 68 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 69 | NA | NA | hetero | NA | NA | 35 | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 70 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 71 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| 72 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Sweden | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:521 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.1705 | Alpha missense prediction class:benign | ||||
| 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 | 41 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Point; Point | Mutation effect:Missense; Nonsense | Nucleotide number:497; 520 | |||
| Genome location:Exon6; Exon6 | Subdomain:EGF2; EGF2 | ||||
| Alpha missense prediction value:0.9345 | 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 | NA | 1Y | c.hetero | NA | NA | <1 | I | PF, DIC | 1Y | Spain | anticoagulation therapy | PMID: 7482420; PMID: 6548587 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Silent | Nucleotide number:520; 660 | |||
| Genome location:Exon6; Exon7 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | NA | 24 | I | Other VTE | NA | Netherlands | thrombosis (Other VTE); anticoagulation therapy | PMID: 7482420; PMID: 1868249 |