| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1321 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8864 | 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 | 33 | hetero | 63 | 67 | 69 | I | asymptomatic | 33 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 47 | 52 | 61 | I | NA | NA | Japan | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Japan | NA | PMID: 7482420 |