| Mutation type:Point | Mutation effect:Missense | Nucleotide number:790 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.7385 | 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 | NA | 37 | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:790 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9580 | 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 | NA | hetero | 50 | NA | NA | I | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 2 | NA | NA | hetero | 11 | NA | 19 | I | Other VTE | NA | Korea | anticoagulation therapy | PMID: 24162787 |