| Mutation type:Point | Mutation effect:Missense | Nucleotide number:40 | |||
| Genome location:Exon2 | Subdomain:Signal peptide | ||||
| Alpha missense prediction value:0.0989 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); 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 | 59 | NA | 58 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:41 | |||
| Genome location:Exon2 | Subdomain:Signal peptide | ||||
| 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 | NA | hetero | 38 | NA | 42 | I | NA | NA | UK | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | 38-49 | I | NA | NA | USA | NA | PMID: 7482420 |