| Mutation type:Insertion | Mutation effect:Frameshift | Nucleotide number:716 | |||
| Genome location:Exon8 | 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 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 3 | NA | 32 | hetero | 36.4 | NA | 49.2 | I | DVT, Other VTE | 32 | China | MVT (Other VTE) | PMID: 22545135 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:718 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 24 | hetero | NA | 38 | 35 | I | Other VTE | 24 | France | NA | PMID: 32717757 |