| Mutation type:Point | Mutation effect:Missense | Nucleotide number:169 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.3331 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 64 | |||||
| Patient information: Monoallelic variation (64); 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 | NA | 56 | 43 | I | DVT (37) | 37 | Hungary | NA | PMID: 11091192 |
| 2 | NA | NA | hetero | 43 | NA | NA | I | Other VTE (22) | 22 | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 3 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 30 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 31 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 32 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 33 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 34 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 35 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 36 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 37 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 38 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 39 | NA | NA | hetero | 62.9 | 50.7 | 62.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 40 | F | 45 | hetero | 71 | 40 | 62 | IIb | asymptomatic | 45 | Germany | FVL (hetero). Daughter with DVT, Son with bilateral DVT, mother and grandmother with DVT. | PMID: 32309994 |
| 41 | F | 31 | hetero | 70 | 45 | 67 | IIb | asymptomatic | 31 | Germany | Mother with pregnancy associated DVT (28) and SVT (36). Maternal grandmother PE (30) and DVT (40). Aunt with DVT. | PMID: 32309994 |
| 42 | F | 27 | hetero | 74 | 51 | 55 | IIb | miscarriage (n=2) | 27 | Germany | Father with PE (20). gestation | PMID: 32309994 |
| 43 | M | 20 | hetero | 69 | 35 | 50 | II | asymptomatic | 20 | Germany | brother DVT (19), sister DVT (16) | PMID: 32309994 |
| 44 | F | 32 | hetero | 64.4 | NA | 66.3 | I | DVT, PE, MI (20), recurrence Other VTE | 20 | Poland | NA | PMID: 28607330 |
| 45 | M | 7 | hetero | 26 | NA | 46.1 | NA | DVT (4, 7), Other VTE (7） | 4 | China | AVT (Other VTE) | PMID: 22951146 |
| 46 | M | 7 | hetero | 26 | NA | 38.64 | I | DVT (7, recurrent) | 7 | China | urokinase and Chinese traditional medicine | PMID: 15198878 |
| 47 | M | NA | hetero | 106 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 48 | F | NA | hetero | 68 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 49 | M | NA | hetero | 68 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 50 | F | NA | hetero | 143 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 51 | F | NA | hetero | 78 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 52 | F | NA | hetero | 59 | NA | 64.86 | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 53 | F | NA | hetero | 50 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 54 | M | NA | hetero | 51 | NA | NA | I | asymptomatic | NA | China | NA | PMID: 15198878 |
| 55 | NA | NA | hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 56 | NA | NA | hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 57 | NA | NA | hetero | NA | 52 | 55 | II | NA | NA | Denmark | NA | PMID: 7482420 |
| 58 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Germany | NA | PMID: 7482420 |
| 59 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Germany | NA | PMID: 7482420 |
| 60 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Germany | NA | PMID: 7482420 |
| 61 | NA | NA | hetero | 33 | NA | 90 | II | NA | NA | UK | NA | PMID: 7482420 |
| 62 | NA | NA | hetero | NA | NA | NA | II | NA | NA | UK | NA | PMID: 7482420 |
| 63 | NA | NA | hetero | NA | NA | NA | II | NA | NA | UK | NA | PMID: 7482420 |
| 64 | NA | NA | hetero | NA | 52 | 77 | II | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:169 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.5543 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 7 | |||||
| Patient information: Monoallelic variation (7); 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 | 79.6 | 60 | 74.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 79.6 | 60 | 74.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 79.6 | 60 | 74.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 79.6 | 60 | 74.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 79.6 | 60 | 74.5 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 44 | 74 | 83 | II | NA | NA | Japan | NA | PMID: 7482420 |
| 7 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:170 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.1778 | 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 | NA | NA | hetero | 106 | 55.5 | 91 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 106 | 55.5 | 91 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | NA | 60 | 58 | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:169; 169 | |||
| Genome location:Exon3; Exon3 | Subdomain:Gla; Gla | ||||
| Alpha missense prediction value:0.3331; 0.3331 | 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 | homo | 9 | NA | 43 | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Gene expression; Missense | Nucleotide number:-184; 169 | |||
| Genome location:Promoter; Exon3 | Subdomain:NA; Gla | ||||
| Alpha missense prediction value:0.3331 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | c.hetero | NA | NA | NA | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:169; 1201 | |||
| Genome location:Exon3; Exon9 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.3331; 0.9305 | Alpha missense prediction class:benign; 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 | NA | c.hetero | <5 | NA | 45 | I | Other VTE | NA | USA | thrombosis (Other VTE) | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:169; 565 | |||
| Genome location:Exon3; Exon7 | Subdomain:Gla; Linker | ||||
| Alpha missense prediction value:0.3331; 0.0952 | 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 | 27 | c.hetero | 39 | NA | 42.1 | NA | DVT (25, 26) | 25 | China | NA | PMID: 22951146 |