| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1267 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8879 | Alpha missense prediction class:pathogenic | ||||
| 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 | 53 | 67 | 106.7 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 53 | 67 | 106.7 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 53 | 67 | 106.7 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 58-65 | 52-59 | 144-156 | II | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1267 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9711 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 50 | hetero | 27 | 28 | 74 | IIa | Other VTE | 50 | France | NA | PMID: 32717757 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:1268 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 44 | NA | 41 | I | asymptomatic | NA | Japan | NA | PMID: 10997987 |
| 2 | M | NA | hetero | 44 | NA | 41 | I | asymptomatic | NA | Japan | NA | PMID: 10997987 |
| 3 | NA | NA | hetero | 68 | 67 | 60 | I | stroke, angina pectoris (58) | 58 | Japan | NA | PMID: 8883262 |
| 4 | NA | NA | hetero | NA | 33 | 43 | I | stroke, PE (61) | 61 | Japan | NA | PMID: 8883262 |
| 5 | F | 77 | hetero | 54 | NA | 42 | I | arterial occlusion (77), acute heart failure (68) | 68 | Japan | Aortic mural thrombus (arterial occlusion) | PMID: 31092765 |
| 6 | M | 38 | hetero | 48 | NA | 35 | I | PE | 38 | Japan | NA | PMID: 19373522 |
| 7 | M | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 19373522 |
| 8 | F | NA | hetero | 63 | 66 | 57 | I | asymptomatic | NA | Japan | NA | PMID: 7482420; PMID: 8115990 |
| 9 | F | NA | hetero | 43 | 38 | 48 | I | asymptomatic | NA | Japan | NA | PMID: 7482420; PMID: 8115990 |
| 10 | NA | NA | hetero | NA | 41 | 51 | I | NA | NA | Japan | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | 31 | 44 | I | NA | NA | Japan | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |
| Mutation type:Deletion; Deletion | Mutation effect:Frameshift; Frameshift | Nucleotide number:1268; 1268 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | homo | 3 | NA | <5 | I | PF (3D), DIC (9D) | 3D | Japan | FFP, LMWH, APC concentrate | PMID: 10997987 |
| 2 | M | NA | homo | NA | <5 | NA | I | BD, PF, DVT | 0-1y | Japan | ICTH (BD) | PMID: 28111891 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:202; 1268 | |||
| Genome location:Exon3; Exon9 | Subdomain:Gla; Serine protease | ||||
| Alpha missense prediction value:0.5914 | 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 | 0Y | c.hetero | 12.5 | NA | 20 | I | PF, BD, DIC | 0Y | Japan | intracranial bleeding (BD); anticoagulation therapy | PMID: 7482420; PMID: 8115990 |
| 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; 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 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:1218; 1268 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8981 | 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 | NA | NA | c.hetero | NA | 6 | 2 | I | BD (0) | 0-1y | Japan | bleeding (BD) | PMID: 9840027 |