| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:400 | |||
| Genome location:Exon5 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 40 | 46 | 39 | I | DVT, PE (57) | 57 | Japan | NA | PMID: 8883262 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| 5 | NA | NA | hetero | 50-60 | NA | NA | I | NA | NA | Germany | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Nonsense | Nucleotide number:400; 400 | |||
| Genome location:Exon5; Exon5 | Subdomain:EGF2; EGF2 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | homo | <5 | NA | <5 | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 7482420 |