| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:829; 829 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.884; 0.884 | Alpha missense prediction class:pathogenic; 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 | NA | 0-1Y | homo | NA | NA | <1 | I | PF, OD, hypertension | 0-1y | Israel | blindness (OD); consanguineous marriage, anticoagulation therapy | PMID: 32980846 |