| Mutation type:Point | Mutation effect:Missense | Nucleotide number:631 | |||
| Genome location:Exon7 | Subdomain:Activation peptide | ||||
| Alpha missense prediction value:0.1636 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 71 | |||||
| Patient information: Monoallelic variation (71); 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 | 50 | NA | 50 | I | asymptomatic | NA | India | NA | PMID: 10942114 |
| 2 | M | NA | hetero | 50 | NA | 50 | I | asymptomatic | NA | India | NA | PMID: 10942114 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | 64 | 50 | 76 | I | NA | NA | Japan | NA | PMID: 9840027 |
| 5 | F | NA | hetero | 35 | NA | 58 | I | PE (43, 44) | 43 | Korea | heparin, anticoagulation therapy | PMID: 9610620 |
| 6 | F | NA | hetero | 48 | NA | 56 | I | asymptomatic | NA | Korea | NA | PMID: 9610620 |
| 7 | F | NA | hetero | 40 | NA | 56 | I | asymptomatic | NA | Korea | NA | PMID: 9610620 |
| 8 | F | NA | hetero | 50 | NA | 58 | I | asymptomatic | NA | Korea | NA | PMID: 9610620 |
| 9 | M | NA | hetero | 35 | NA | 52 | I | asymptomatic | NA | Korea | NA | PMID: 9610620 |
| 10 | NA | NA | hetero | 60 | NA | 60 | I | asymptomatic | NA | Japan | NA | PMID: 8883262 |
| 11 | NA | NA | hetero | NA | 23 | 38 | I/II | Other VTE (24) | 24 | Italy | thrombosis (Other VTE); anticoagulant therapy | PMID: 8829639 |
| 12 | M | NA | hetero | NA | 43 | 54 | I/II | Other VTE (33) | 33 | Italy | thrombosis (Other VTE); anticoagulant therapy | PMID: 8829639 |
| 13 | F | NA | hetero | NA | 36 | 50 | I/II | asymptomatic | NA | Italy | anticoagulant therapy | PMID: 8829639 |
| 14 | F | NA | hetero | 46 | NA | 94 | I/II | asymptomatic | NA | Italy | NA | PMID: 8829639 |
| 15 | F | NA | hetero | 31 | NA | 84 | I/II | asymptomatic | NA | Italy | NA | PMID: 8829639 |
| 16 | NA | NA | hetero | 49 | NA | 80 | I/II | Other VTE | 40 | Italy | thrombosis (Other VTE) | PMID: 8829639 |
| 17 | M | NA | hetero | 43 | NA | 82 | I/II | asymptomatic | NA | Italy | NA | PMID: 8829639 |
| 18 | M | NA | hetero | 69 | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 34654403 |
| 19 | F | NA | hetero | 57 | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 34654403 |
| 20 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 51.7 | 60.3 | 63.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 30 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 31 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 32 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 33 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 34 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 35 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 36 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 37 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 38 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 39 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 40 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 41 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 42 | NA | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 24162787 |
| 43 | NA | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 24162787 |
| 44 | NA | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 24162787 |
| 45 | NA | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 24162787 |
| 46 | NA | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 24162787 |
| 47 | NA | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 24162787 |
| 48 | M | 18 | hetero | 40 | NA | 44 | I | DVT | 18 | India | heparin | PMID: 22576310 |
| 49 | F | NA | hetero | NA | NA | NA | I | DVT | NA | India | NA | PMID: 22576310 |
| 50 | F | 30 | hetero | 38 | NA | 44 | NA | DVT | 30 | Japan | NA | PMID: 19373522 |
| 51 | F | NA | hetero | NA | NA | NA | NA | NA | NA | Japan | NA | PMID: 19373522 |
| 52 | M | 18 | hetero | 40 | NA | 44 | NA | DVT (18) | 18 | India | NA | PMID: 19350130 |
| 53 | F | NA | hetero | NA | NA | NA | NA | DVT and later died due to sepsis | NA | India | Surgery | PMID: 19350130 |
| 54 | M | 15 | hetero | NA | 57 | 49 | I | asymptomatic | 15 | Korea | NA | PMID: 18573519 |
| 55 | M | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | Korea | NA | PMID: 18376272 |
| 56 | M | 24 | hetero | NA | 43 | 68 | II | PE (24) | 24 | Japan | heparin, urokinase and anticoagulation therapy. Drinking and smoking | PMID: 17603240 |
| 57 | M | NA | hetero | NA | 28 | 56 | II | PE | NA | Japan | NA | PMID: 17603240 |
| 58 | NA | NA | hetero | NA | 60 | 79 | I/II | asymptomatic | NA | Japan | NA | PMID: 7482420; PMID: 3185623 |
| 59 | NA | NA | hetero | NA | 48 | 60 | I/II | asymptomatic | NA | Japan | NA | PMID: 7482420; PMID: 3185623 |
| 60 | NA | NA | hetero | NA | 29 | 31 | I | NA | NA | Germany | NA | PMID: 7482420 |
| 61 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 62 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 63 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 64 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 65 | NA | NA | hetero | 46 | 49 | 60 | I | NA | NA | Japan | NA | PMID: 7482420 |
| 66 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 67 | NA | NA | hetero | NA | 50 | 52 | I | NA | NA | USA | NA | PMID: 7482420 |
| 68 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 69 | NA | NA | hetero | 30 | NA | 40 | II | NA | NA | UK | NA | PMID: 7482420 |
| 70 | NA | NA | hetero | NA | NA | NA | II | NA | NA | UK | NA | PMID: 7482420 |
| 71 | NA | NA | hetero | NA | NA | NA | II | NA | NA | UK | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:632 | |||
| Genome location:Exon7 | Subdomain:Activation peptide | ||||
| Alpha missense prediction value:0.144 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 13 | |||||
| Patient information: Monoallelic variation (13); 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 | 51 (17-77) | NA | II | NA | NA | Finland | NA | PMID: 11019966 |
| 2 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| 3 | M | 37 | hetero | 56 | 46 | 69.8 | I | Other VTE (36) | 36 | Poland | SVT (Other VTE); Rivaroxaban | PMID: 35627118 |
| 4 | NA | NA | hetero | 60 | 49 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 60 | 49 | 57.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | F | 49 | hetero | 41.5 | NA | 55.7 | I | DVT, PE (47), Other VTE | 47 | Poland | family history of VTE | PMID: 28607330 |
| 7 | NA | 55 | hetero | 52.1 | NA | 31.5 | I | DVT | 55 | China | NA | PMID: 22545135 |
| 8 | F | NA | hetero | 60-64 | NA | 60-64 | I | Other VTE | NA | India | CVT (Other VTE) | PMID: 20077116 |
| 9 | M | NA | hetero | 60-64 | NA | 60-64 | I | asymptomatic | NA | India | NA | PMID: 20077116 |
| 10 | NA | NA | hetero | NA | 23 | 36 | II | NA | NA | Austria | anticoagulation therapy | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Austria | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | 47 | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | 59 | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:631; 631 | |||
| Genome location:Exon7; Exon7 | Subdomain:Activation peptide; Activation peptide | ||||
| Alpha missense prediction value:0.1636; 0.1636 | Alpha missense prediction class:benign; 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 | homo | 1 | NA | 1 | I | PF (neonatal) | 0-1y | India | consanguineous marriage | PMID: 10942114 |
| 2 | M | 4D | homo | <10 | NA | 20.04 | I | PF (4D), BD, OD, diffuse cerebral dysfunction and focal seizures, Other VTE, DIC, DVT | 0-1y | Korea | thrombosis (Other VTE), ICH (BD), BRD (OD); protein C concentrates, FFP, LMWH, anticoagulant therapy and ophthalmic surgery | PMID: 34654403 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:632; 632 | |||
| Genome location:Exon7; Exon7 | Subdomain:Activation peptide; Activation peptide | ||||
| Alpha missense prediction value:0.144; 0.144 | 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 | 10D | homo | 7.5 | NA | 5 | I | ischemic damage, BD, PF (10D, died on the 28D) | 10D | India | vitreous hemorrhage (BD); FFP, heparin, ceftriaxone. consanguineous marriage | PMID: 20077116 |
| Mutation type:Point; Point; Point | Mutation effect:Gene expression; Gene expression; Missense | Nucleotide number:-228; -228; 632 | |||
| Genome location:Promoter; Promoter; Exon7 | Subdomain:NA; NA; Activation peptide | ||||
| Alpha missense prediction value:0.144 | Alpha missense prediction class: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 | F | 45 | c.hetero; homo | 53.75 | NA | <70 | NA | asymptomatic | 45 | Thailand | NA | PMID: 30925296 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Missense | Nucleotide number:176; 631 | |||
| Genome location:Exon3; Exon7 | Subdomain:Gla; Activation peptide | ||||
| Alpha missense prediction value:0.1636 | 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 | F | NA | c.hetero | NA | 8 | NA | NA | OD | 0-1Y | Korea | BRD (OD); FFP, heparin and tissue plasminogen activator infusion, protein C concentrate, Ceprotin treatment, anticoagulation therapy | PMID: 18376272 |
| 2 | F | NA | c.hetero | NA | <10 | NA | NA | DIC (1D), BD, OD, renal dysgenesis with hypertension | 1D | Korea | ICH (BD), BRD (OD); protein C concentrate, LMWH | PMID: 18376272 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:565; 632 | |||
| Genome location:Exon7; Exon7 | Subdomain:Linker; Activation peptide | ||||
| Alpha missense prediction value:0.0952; 0.144 | 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 | 33 | c.hetero | NA | NA | PC defect | NA | multiple DVT (23, 24, 31) | 23 | China | Trauma 1st | PMID: 37789321 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 631 | |||
| Genome location:Exon7; Exon7 | Subdomain:Linker; Activation peptide | ||||
| Alpha missense prediction value:0.1636 | Alpha missense prediction class: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 | F | 22 | c.hetero | NA | 17 | 50 | NA | BD (22), Other VTE (23) | 22 | Japan | Coagulopathy (BD), thrombosis (Other VTE) | PMID: 28111891 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:629; 631 | |||
| Genome location:Exon7; Exon7 | Subdomain:Activation peptide; Activation peptide | ||||
| Alpha missense prediction value:0.1258; 0.1636 | 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 | 51 | c.hetero | NA | 4 | 13 | I | DVT (17), PE (19) | 17 | Korea | anticoagulation therapy. His mother had DVT. | PMID: 18573519 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:631; 1268 | |||
| Genome location:Exon7; Exon9 | Subdomain:Activation peptide; Serine protease | ||||
| Alpha missense prediction value:0.1636 | 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 | M | NA | c.hetero | NA | <5 | NA | I | PF | 0D | Japan | NA | PMID: 28111891 |
| 2 | M | neonate | c.hetero | 10 | NA | 5 | I | PF (neonate) | 0-1Y | Japan | NA | PMID: 19373522 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Exon deletion | Nucleotide number:631; NA | |||
| Genome location:Exon7; Exon1_9 | Subdomain:Activation peptide; NA | ||||
| Alpha missense prediction value:0.1636 | Alpha missense prediction class: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 | F | 18 | c.hetero | NA | <1 | 19 | I | DVT, PE, recurrent Other VTE | 14 | Japan | thrombosis (Other VTE) | PMID: 7482420; PMID: 3185623 |