| Mutation type:Point | Mutation effect:Missense | Nucleotide number:866 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.226 | Alpha missense prediction class:benign | ||||
| 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 | NA | hetero | 6 | NA | <10 | I | NA | NA | UK | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 5 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:866; 866 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1657; 0.1657 | Alpha missense prediction class:benign; benign | ||||
| 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 | 68 | homo | 15.75 (4; 4; 27.1) | NA | NA | NA | Other VTE | 68 | Czech Republic; Slovak Republic | family history of thromboembolic states | PMID: 35626216 |