| Mutation type:Point | Mutation effect:Missense | Nucleotide number:127 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.1596 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 17 | |||||
| Patient information: Monoallelic variation (17); 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 | 66 | 50 | 90 | II | DVT (20, 43, 45) | 20 | Austria | NA | PMID: 11053623 |
| 2 | M | 16 | hetero | 65 | 46 | 86 | II | asymptomatic | 16 | Austria | NA | PMID: 11053623 |
| 3 | M | 19 | hetero | 63 | 46 | 88 | II | asymptomatic | 19 | Austria | NA | PMID: 11053623 |
| 4 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 5 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 6 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 108 | 92.4 | 91.6 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | F | 28 | hetero | 92 | 68 | 73 | IIb | asymptomatic | 28 | Germany | Sister: DVT (30); mother: DVT (54), PE (47). FVL | PMID: 32309994 |
| 16 | M | 47 | hetero | 110 | 62 | 96 | IIb | DVT (19 , 28) | 19 | Germany | Father and 2 sisters: DVT, PE. | PMID: 32309994 |
| 17 | NA | NA | hetero | NA | 55 | 106 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:127; 793 | |||
| Genome location:Exon3; Exon8 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.1596; 0.3365 | 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 | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |