| Mutation type:Point | Mutation effect:Missense | Nucleotide number:437 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.6173 | Alpha missense prediction class:pathogenic | ||||
| 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 | M | NA | hetero | NA | 79 | 86 | NA | NA | NA | Spain | NA | PMID: 31254973 |
| 2 | M | NA | hetero | NA | NA | NA | NA | NA | NA | Spain | NA | PMID: 31254973 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:437; 1101 | |||
| Genome location:Exon6; Exon9 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:0.6173 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | NA | c.hetero | NA | 54 | 45 | I | NA | NA | Spain | NA | PMID: 31254973 |