| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:271 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 20 | hetero | 39 | 29 | NA | I | asymptomatic | 20 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 51 | 32 | 35 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |