| Mutation type:Point | Mutation effect:Missense | Nucleotide number:686 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9934 | Alpha missense prediction class:pathogenic | ||||
| 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 | 43 | 48 | 41 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 43 | 48 | 41 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 43 | 48 | 41 | I | asymptomatic | NA | France | NA | PMID: 32717757 |