| Mutation type:Point | Mutation effect:Missense | Nucleotide number:2 | |||
| Genome location:Exon2 | Subdomain:Signal peptide | ||||
| Alpha missense prediction value:0.3838 | Alpha missense prediction class:ambiguous | ||||
| 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 | 49 | hetero | NA | 59 | 64 | I | Other VTE | 49 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 65 | 71 | 66 | I | NA | NA | Japan | NA | PMID: 7482420 |