| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1198 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.7675 | 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 | F | NA | hetero | NA | NA | 56 | NA | asymptomatic | NA | UAE | NA | PMID: 29082047 |
| 2 | M | NA | hetero | NA | NA | 73 | NA | asymptomatic | NA | UAE | NA | PMID: 29082047 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1199 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9362 | Alpha missense prediction class:pathogenic | ||||
| 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 | 46.5 | 49.5 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 46.5 | 49.5 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | NA | 49 | 85 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1198; 1198 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.7675; 0.7675 | Alpha missense prediction class:pathogenic; 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 | M | 8M | homo | NA | NA | <10 | I | subcutaneous lumps (2M, recurrent), PF, panniculitis (5M), DIC, Gram-negative sepsis, hypertension, respiratory failure | 0-1y | UAE | consanguineous marriage, FFP, protein C concentrate and LMWH | PMID: 29082047 |