| Mutation type:Point | Mutation effect:Missense | Nucleotide number:638 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0999 | Alpha missense prediction class:benign | ||||
| 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 | 35 | hetero | 47 | 39 | 61 | I | asymptomatic | 35 | France | NA | PMID: 32717757 |