| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:730; 1162 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1818; 0.7699 | Alpha missense prediction class:benign; 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 | M | NA | double hetero | NA | NA | 32 | I | NA | NA | Turkey | NA | PMID: 9690806 |
| 2 | F | NA | double hetero | NA | NA | 40 | I | NA | NA | Turkey | NA | PMID: 9690806 |
| 3 | NA | NA | double hetero | NA | 35 | 41 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 4 | NA | NA | double hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 5 | NA | NA | double hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:730; 1201 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1818; 0.9305 | Alpha missense prediction class:benign; 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 | NA | NA | c.hetero | 44 | 31 | 47 | I | stroke (63) | 63 | Japan | NA | PMID: 9840027 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:730; 1162 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1818; 0.7699 | Alpha missense prediction class:benign; 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 | NA | c.hetero | 4 | NA | 3 | I | PF (neonatal) | 0-1y | Turkey | consanguineous marriage | PMID: 9690806 |
| 2 | NA | NA | c.hetero | 65 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |