| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:740 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | 29 | hetero | 49 | NA | 66 | I | Other VTE | 29 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 61.6 | NA | NA | I | DVT | NA | China | NA | PMID: 24028705 |