| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1243 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8936 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 5 | |||||
| Patient information: Monoallelic variation (5); 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 | NA | NA | NA | NA | Iran | NA | PMID: 38046799 |
| 2 | M | NA | hetero | NA | NA | NA | NA | Other VTE (elder age) | NA | Iran | NA | PMID: 38046799 |
| 3 | F | NA | hetero | NA | NA | NA | NA | Other VTE (elder age) | NA | Iran | NA | PMID: 38046799 |
| 4 | M | NA | hetero | 86 | NA | NA | NA | asymptomatic | NA | Iran | NA | PMID: 38046799 |
| 5 | F | NA | hetero | 51.5 | NA | NA | NA | diabetes and mild thrombocytopenia, miscarriage, the loss of another infant with PF | NA | Iran | NA | PMID: 38046799 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1243 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8799 | 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 | 46 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1243; 1243 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8936; 0.8936 | Alpha missense prediction class:pathogenic; pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | 2M | homo | 6 | NA | NA | NA | PF (neonate, 2M died) | 0-1y | Iran | phototherapy, platelet transfusion, FFP and broad-spectrum antibiotic prophylaxis. consanguineous marriage | PMID: 38046799 |
| 2 | F | 14D | homo | NA | NA | NA | NA | PF (neonate, 14D died) | 0-1y | Iran | consanguineous marriage | PMID: 38046799 |