| Mutation type:Point | Mutation effect:Missense | Nucleotide number:112 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.1252 | Alpha missense prediction class:benign | ||||
| 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 | 86 | 57.3 | 75.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 86 | 57.3 | 75.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 86 | 57.3 | 75.5 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 58 | 40 | 70 | II | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:112; 386 | |||
| Genome location:Exon3; Exon5 | Subdomain:Propeptide; EGF1 | ||||
| Alpha missense prediction value:0.1252; 0.0861 | Alpha missense prediction class:benign; benign | ||||
| 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 | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |