| Mutation type:Point | Mutation effect:Missense | Nucleotide number:365 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.9544 | Alpha missense prediction class:pathogenic | ||||
| 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 | 48 | hetero | 59 | 57 | 55 | I | asymptomatic | 48 | France | NA | PMID: 32717757 |