| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1273 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.93 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 38 | hetero | 53 | 49 | 96 | IIa | asymptomatic | 38 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420; PMID: 1868249 |
| 3 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420; PMID: 1868249 |
| Mutation type:Point; Point | Mutation effect:Splice; Missense | Nucleotide number:678; 1273 | |||
| Genome location:Intron7; Exon9 | Subdomain:NA; Serine protease | ||||
| Alpha missense prediction value:0.93 | 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 | NA | NA | c.hetero | 49 | 36 | 83 | II | Other VTE | 45 | Spain | thrombosis (Other VTE) | PMID: 7482420; PMID: 1868249 |