| Mutation type:Point | Mutation effect:Missense | Nucleotide number:809 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9031 | 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 | M | NA | hetero | NA | NA | 41 | NA | NA | NA | Turkey | NA | PMID: 24115609 |
| 2 | F | NA | hetero | NA | NA | NA | NA | miscarriage (n=4) | NA | Turkey | NA | PMID: 24115609 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:809; 809 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.9031; 0.9031 | 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 | 10D | homo | NA | NA | 4 | I | PF, DIC, BD, OD | 0-1Y | Turkey | ICH (BD), vitreous hemorrhage (BD), Bilateral leukocoria (OD); FFP, Protein C concentrate, LMWH. consanguineous marriage | PMID: 24115609 |