| Mutation type:Point | Mutation effect:Missense | Nucleotide number:322 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.0864 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 8 | |||||
| Patient information: Monoallelic variation (8); 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 | 97.3 | 70 | 78.7 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 97.3 | 70 | 78.7 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 97.3 | 70 | 78.7 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | F | 18 | hetero | 73 | 57 | NA | II | asymptomatic | 18 | Germany | Grandmother with DVT (56) | PMID: 32309994 |
| 5 | NA | NA | hetero | NA | 77 | NA | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 6 | NA | NA | hetero | NA | 66 | 122 | II | NA | NA | USA | NA | PMID: 7482420 |
| 7 | NA | NA | hetero | NA | NA | NA | II | asymptomatic | NA | USA | NA | PMID: 7482420 |
| 8 | NA | NA | hetero | NA | NA | NA | II | asymptomatic | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Frameshift | Nucleotide number:322; 1207 | |||
| Genome location:Exon5; Exon9 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.0864 | Alpha missense prediction class: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 | <10 | NA | 5 | I | Recurrent DVT (13) | 13 | India | consanguineous marriage | PMID: 10942114 |