| Mutation type:Point | Mutation effect:Missense | Nucleotide number:151 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.2413 | 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 | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 75 | 51 | 80.4 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 75 | 51 | 80.4 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 75 | 51 | 80.4 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:152 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.098 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 16 | |||||
| Patient information: Monoallelic variation (16); 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 | 87 | 45 | 83 | II | DVT, PE (41) | 41 | NA | NA | PMID: 10691853 |
| 2 | F | NA | hetero | 54 | 13 | 64 | II | Other VTE (64) | 64 | NA | CVT (Other VTE); FVL | PMID: 10691853 |
| 3 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 5 | F | NA | hetero | NA | NA | NA | II | asymptomatic | NA | China | NA | PMID: 36561968 |
| 6 | M | NA | hetero | NA | NA | NA | II | asymptomatic | NA | China | NA | PMID: 36561968 |
| 7 | F | NA | hetero | NA | NA | NA | II | asymptomatic | NA | China | NA | PMID: 36561968 |
| 8 | M | NA | hetero | NA | NA | NA | II | asymptomatic | NA | China | NA | PMID: 36561968 |
| 9 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 75.1 | 44.9 | 72.4 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:152; 152 | |||
| Genome location:Exon3; Exon3 | Subdomain:Gla; Gla | ||||
| Alpha missense prediction value:0.098; 0.098 | Alpha missense prediction class:benign; 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 | 30 | homo | 35 | NA | 115.2 | II | DVT (21), Other VTE, erosive small ulcers (30), ischemic bowel disease, acute renal failure (30, died at 30) | 21 | China | PVT (Other VTE); LMWH, anticoagulant therapy | PMID: 36561968 |
| Mutation type:Point; Point; Point | Mutation effect:Missense; Missense; Missense | Nucleotide number:151; 352; 1067 | |||
| Genome location:Exon3; Exon5; Exon9 | Subdomain:Gla; EGF1; Serine protease | ||||
| Alpha missense prediction value:0.2413; 0.9473; 0.1234 | Alpha missense prediction class:benign; pathogenic; 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 | NA | c.hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:151; 659 | |||
| Genome location:Exon3; Exon7 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.2413; 0.0726 | Alpha missense prediction class:benign; 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 | NA | c.hetero | NA | NA | 47 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 7482420 |