| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:1088 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | 17 | hetero | NA | 41 | 41 | I | asymptomatic | 17 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | NA | NA | 46 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 3 | NA | NA | hetero | 36 | 30 | 38 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 5 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:1089 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | NA | 53 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |