| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1201 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9305 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 33 | |||||
| Patient information: Monoallelic variation (33); 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 | M | NA | hetero | NA | 46 | 110 | II | DVT (27, 38), PE (31, 46) | 27 | Hungary | NA | PMID: 11091192 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 5 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 58.7 | 58.4 | 67.2 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 20 | NA | NA | hetero | NA | 18 | 54 | II | NA | NA | USA | NA | PMID: 7482420 |
| 21 | NA | NA | hetero | 56 | 59 | 91 | II | NA | NA | Japan | NA | PMID: 7482420 |
| 22 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 23 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 24 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 25 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 27 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 28 | NA | NA | hetero | 53 | 57 | 98 | II | NA | NA | Japan | NA | PMID: 7482420 |
| 29 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 30 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 31 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 32 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 33 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Japan | NA | PMID: 7482420 |
| 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:Silent; Missense | Nucleotide number:423; 1201 | |||
| Genome location:Exon6; Exon9 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:0.9305 | 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 | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:730; 1201 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1818; 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 | 44 | 31 | 47 | I | stroke (63) | 63 | Japan | NA | PMID: 9840027 |