| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:117 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | NA | 62 | I | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:118 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.1985 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 42 | |||||
| Patient information: Monoallelic variation (42); 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 | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 57 | 58.5 | 59 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 57 | 58.5 | 59 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | NA | 61 | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 30 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 31 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 32 | NA | NA | hetero | NA | 42 | 60 | I | NA | NA | France | NA | PMID: 7482420 |
| 33 | NA | NA | hetero | NA | 45 | 53 | I | NA | NA | France | NA | PMID: 7482420 |
| 34 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 35 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 36 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 37 | NA | NA | hetero | NA | 63 | 60 | I | NA | NA | France | NA | PMID: 7482420 |
| 38 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 39 | NA | NA | hetero | 60 | 33 | 52 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 40 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 41 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 42 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:118; 1027 | |||
| Genome location:Exon3; Exon9 | Subdomain:Propeptide; Serine protease | ||||
| Alpha missense prediction value:0.1985; 0.8616 | 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 | 18 | NA | NA | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |