| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:818 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 57 | I | miscarriage | NA | China | NA | PMID: 37906136 |
| 2 | M | 16 | hetero | 9 | NA | 10 | I | Other VTE | 16 | India | CVT (Other VTE) | PMID: 22576310 |
| 3 | M | 16 | hetero | 9 | NA | 10 | I | Other VTE (16) | 16 | India | thrombosis (Other VTE) | PMID: 19350130 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Missense | Nucleotide number:818; 833 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.7177 | Alpha missense prediction class: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 | 0-1Y | c.hetero | NA | NA | NA | I | BD, heart failure (neonate) | 0-1y | China | ICH (BD) | PMID: 37906136 |