| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1015 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8511 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 95 | |||||
| Patient information: Monoallelic variation (95); 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 | 47 | 30 | I | DVT (23, 24), PE (23) | 23 | Hungary | FVL heterozygous | PMID: 11091192 |
| 2 | F | NA | hetero | NA | 39 | 43 | I | asymptomatic | NA | Hungary | FVL heterozygous | PMID: 11091192 |
| 3 | M | NA | hetero | NA | 39 | 55 | I | asymptomatic | NA | Hungary | FVL heterozygous | PMID: 11091192 |
| 4 | M | NA | hetero | NA | 36 | 44 | I | DVT (18, 31, 42) | 18 | Hungary | FVL heterozygous | PMID: 11091192 |
| 5 | M | NA | hetero | NA | 35 | 58 | I | DVT (37, 38) | 37 | Hungary | FVL heterozygous | PMID: 11091192 |
| 6 | F | NA | hetero | NA | 37 | 18 | I | stroke (32) | 32 | Hungary | NA | PMID: 11091192 |
| 7 | F | NA | hetero | NA | 38 | 18 | I | asymptomatic | NA | Hungary | NA | PMID: 11091192 |
| 8 | F | NA | hetero | NA | 35 | 48 | I | DVT (39) | 39 | Hungary | FVL heterozygous | PMID: 11091192 |
| 9 | F | NA | hetero | 3 | NA | 1 | I | DVT (45) | 45 | Korea | anticoagulant therapy | PMID: 10231023 |
| 10 | M | NA | hetero | 10 | NA | 5 | I | asymptomatic | NA | Korea | NA | PMID: 10231023 |
| 11 | M | NA | hetero | 52 | NA | 48 | I | asymptomatic | NA | Korea | NA | PMID: 10231023 |
| 12 | F | NA | hetero | 58 | NA | 43 | I | asymptomatic | NA | Korea | NA | PMID: 10231023 |
| 13 | NA | NA | hetero | 61 | 50 | 53 | I | AMI (48) | 48 | Japan | NA | PMID: 9840027 |
| 14 | NA | NA | hetero | 50 | 54 | 56 | I | pulmonary atresia? | NA | Japan | NA | PMID: 9840027 |
| 15 | NA | NA | hetero | NA | 25 | 37 | I | PE (31), DVT (31) | 31 | Japan | NA | PMID: 9840027 |
| 16 | NA | NA | hetero | 46 | 45 | 45 | I | stroke (61) | 61 | Japan | NA | PMID: 8883262 |
| 17 | NA | NA | hetero | 59 | NA | 53 | I | stroke (48) | 48 | Japan | NA | PMID: 8883262 |
| 18 | NA | NA | hetero | 49 | 38 | 45 | I | angina pectoris (37) | 37 | Japan | NA | PMID: 8883262 |
| 19 | NA | NA | hetero | 54 | 57 | 62 | I | DVT, ASO (26) | 26 | Japan | NA | PMID: 8883262 |
| 20 | NA | NA | hetero | 51 | 52 | 56 | I | suspect angina pectoris | NA | Japan | NA | PMID: 8883262 |
| 21 | NA | NA | hetero | NA | 40 | 48 | I | DVT (35) | 35 | Japan | NA | PMID: 8883262 |
| 22 | M | NA | hetero | NA | NA | NA | I | NA | NA | China | NA | PMID: 37789321 |
| 23 | M | 49 | hetero | 111 | NA | 50 | I | acute stroke (47-49, n=5) | 47 | China | his father and uncle suffered from “CIs” repeatedly. ; anticoagulation therapy | PMID: 33761690 |
| 24 | M | NA | hetero | Normal | NA | Normal | I | asymptomatic | NA | China | NA | PMID: 33761690 |
| 25 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 30 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 31 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 32 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 33 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 34 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 35 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 36 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 37 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 38 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 39 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 40 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 41 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 42 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 43 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 44 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 45 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 46 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 47 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 48 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 49 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 50 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 51 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 52 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 53 | NA | NA | hetero | 47.1 | 42 | 43.9 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 54 | M | NA | hetero | NA | NA | NA | I | Other VTE (28) | 28 | Denmark | NA | PMID: 31821907 |
| 55 | NA | 58 | hetero | NA | 54 | 42 | I | Other VTE (52) | 52 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 56 | NA | NA | hetero | NA | NA | NA | I | Other VTE (63) | 63 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 57 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 58 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 59 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 60 | NA | 47 | hetero | NA | 54 | 23 | I | Other VTE (42, recurrent) | 42 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 61 | NA | NA | hetero | NA | NA | NA | I | Other VTE (23, recurrent) | 23 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 62 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 63 | NA | 37 | hetero | NA | 24 | 21 | I | Other VTE (36) | 36 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 64 | NA | 79 | hetero | NA | 43 | 22 | I | Other VTE (30, recurrent) | 30 | Spain | CVT (Other VTE) | PMID: 31254973 |
| 65 | NA | 37 | hetero | 54 | NA | 50 | I | Other VTE (36, recurrent) | 36 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 66 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 67 | NA | 62 | hetero | NA | NA | 23 | I | Other VTE (35, recurrent) | 35 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 68 | NA | 57 | hetero | NA | NA | 41 | I | Other VTE (50), MI | 50 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 69 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 70 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 71 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 72 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 73 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 74 | NA | 21 | hetero | NA | NA | 41 | I | Other VTE (17, recurrent) | 17 | Spain | PVT (Other VTE) | PMID: 31254973 |
| 75 | NA | NA | hetero | NA | NA | NA | I | Other VTE (68) | 68 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 76 | NA | 64 | hetero | NA | NA | NA | I | multiple Other VTE (55) | 55 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 77 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 78 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 79 | M | 43 | hetero | 60 | NA | 64.8 | I | Internal carotid AT, stroke (42, recurrent), Other VTE | 42 | Poland | NA | PMID: 28607330 |
| 80 | F | NA | hetero | 50 | NA | 43 | I | BD | NA | Japan | massive hemorrhage (BD); anticoagulation therapy, pregnancy | PMID: 27081530 |
| 81 | F | neonate | hetero | 16 | NA | 17 | I | asymptomatic | 0-1 | Japan | NA | PMID: 27081530 |
| 82 | F | 24 | hetero | 37 (37-48) | NA | 44 (38-55) | I | DVT (24) | 24 | Portugal | Oral contraceptive | PMID: 25533856 |
| 83 | F | 29 | hetero | 37 (37-48) | NA | 44 (38-55) | I | DVT (26) | 26 | Portugal | a relatives with VT. Delivery | PMID: 25533856 |
| 84 | NA | NA | hetero | 37 (37-48) | NA | 44 (38-55) | I | Other VTE | NA | Portugal | NA | PMID: 25533856 |
| 85 | NA | NA | hetero | 37 (37-48) | NA | 44 (38-55) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 86 | F | 35 | hetero | 39 | NA | 42 | I | Other VTE | 35 | Japan | PVT (Other VTE) | PMID: 19373522 |
| 87 | NA | NA | hetero | NA | 40 | 50 | I | NA | NA | France | NA | PMID: 7482420 |
| 88 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 89 | NA | NA | hetero | NA | 31 | 33 | I | NA | NA | France | NA | PMID: 7482420 |
| 90 | NA | NA | hetero | NA | 40 | 44 | I | NA | NA | France | NA | PMID: 7482420 |
| 91 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 92 | NA | NA | hetero | 47 | 36 | 35 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 93 | NA | NA | hetero | NA | 33 | 58 | I | NA | NA | UK | NA | PMID: 7482420 |
| 94 | NA | NA | hetero | NA | 24 | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 95 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:202; 1015 | |||
| Genome location:Exon3; Exon9 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.5914; 0.8511 | Alpha missense prediction class:pathogenic; 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 | F | NA | c.hetero | NA | 17 | NA | I | BD, PF (4D) | 4D | Japan | ICTH (BD) | PMID: 28111891 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 1015 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.8511 | 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 | M | 25 | c.hetero | NA | NA | PC defect | I | DVT (20, 25) | 20 | China | NA | PMID: 37789321 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:580; 1015 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.264; 0.8511 | 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:688; 1015 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8511 | 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 | M | NA | c.hetero | NA | <10 | NA | I | BD | 0D | Japan | ICTH (BD) | PMID: 28111891 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Missense | Nucleotide number:1003; 1015 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8511 | 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 | M | 3 | c.hetero | <10 | NA | <5 | I | PF (2D), BD (3D) | 2D | Japan | Bilateral ocular hemorrhage (BD), ICTH (BD); Both great-grandfathers died from CI. FFP, protein C concentrate and anticoagulation therapy | PMID: 27081530 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:1015; 1268 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8511 | 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 | F | NA | c.hetero | NA | <10 | NA | I | BD, PF | 0D | Japan | ICTH (BD) | PMID: 28111891 |