| Mutation type:Point | Mutation effect:Missense | Nucleotide number:421 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.533 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); 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 | 43.5 | 54.5 | 47 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 43.5 | 54.5 | 47 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:422 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE (36) | 36 | USA | thrombosis (Other VTE); anticoagulant therapy | PMID: 8972002 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | USA | thrombosis (Other VTE) | PMID: 8972002 |
| Mutation type:Point; Point | Mutation effect:Silent; Missense | Nucleotide number:423; 1201 | |||
| Genome location:Exon6; Exon9 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:0.9305 | 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 | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |