| Mutation type:Point | Mutation effect:Missense | Nucleotide number:431 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.8800 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | hetero | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:431 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.2672 | Alpha missense prediction class:benign | ||||
| 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 | NA | 66 | 55 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | NA | 66 | 55 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Delins | Mutation effect:Inframe | Nucleotide number:432 | |||
| 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 | UK | thrombosis (Other VTE) | PMID: 7482420; PMID: 8462980 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | UK | thrombosis (Other VTE) | PMID: 7482420; PMID: 8462980 |
| 3 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | UK | thrombosis (Other VTE) | PMID: 7482420; PMID: 8462980 |
| Mutation type:Delins; Delins | Mutation effect:Inframe; Inframe | Nucleotide number:432; 432 | |||
| Genome location:Exon6; Exon6 | 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 | <1 | NA | <1 | I | recurrent Other VTE | NA | UK | NA | PMID: 7482420; PMID: 8462980 |