| Mutation type:Point | Mutation effect:Missense | Nucleotide number:961 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8283 | 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 | NA | hetero | 61 | NA | 57 | I | NA | NA | UK | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:962 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.7329 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 48 | |||||
| Patient information: Monoallelic variation (48); 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 | 26 | hetero | 52; 56 | 50 | 54 | I | Other VTE (25) | 25 | Poland | Apixaban, family history of VTE | PMID: 35627118 |
| 2 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 48.6 | 48.6 | 49.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 28 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 29 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 30 | NA | 57 | hetero | 50 | NA | NA | I | PE (50) | 50 | Spain | NA | PMID: 31254973 |
| 31 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 32 | NA | 91 | hetero | 42 | NA | NA | I | PE (78, recurrent) | 78 | Spain | NA | PMID: 31254973 |
| 33 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 34 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 35 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 36 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 37 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 38 | NA | NA | hetero | NA | 31 | 40 | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 39 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 40 | NA | NA | hetero | NA | 36 | 45 | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 41 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 42 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 43 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 44 | NA | NA | hetero | NA | 37 | 38 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 45 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 46 | NA | NA | hetero | 34 | NA | 50 | I | NA | NA | USA | NA | PMID: 7482420 |
| 47 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| 48 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Splice; Missense | Nucleotide number:70; 962 | |||
| Genome location:Intron2; Exon9 | Subdomain:NA; Serine protease | ||||
| Alpha missense prediction value:0.7329 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); 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 | 64 | double hetero | NA | NA | NA | NA | Other VTE (60) | 60 | Spain | NA | PMID: 31254973 |
| 2 | F | NA | double hetero | NA | NA | NA | NA | PE (55) | 55 | Spain | NA | PMID: 31254973 |
| Mutation type:Point; Point | Mutation effect:Missense; Silent | Nucleotide number:962; 1107 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.7329 | 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 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |