| Mutation type:Point | Mutation effect:Missense | Nucleotide number:319 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.1581 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 5 | |||||
| Patient information: Monoallelic variation (5); 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 | 71.7 | 68.7 | 51 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 71.7 | 68.7 | 51 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 71.7 | 68.7 | 51 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | NA | 63 | 46 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 5 | NA | NA | hetero | 57 | NA | NA | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:320 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 43 | hetero | 39 | 46 | 35 | I | Other VTE | 43 | France | NA | PMID: 32717757 |