| Mutation type:Point | Mutation effect:Missense | Nucleotide number:523 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.9808 | 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 | M | 31 | hetero | 39 | NA | NA | NA | DVT (9), Recurrence Other VTE | 9 | Poland | NA | PMID: 28607330 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:524 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.9688 | Alpha missense prediction class:pathogenic | ||||
| 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 | 54.8 | NA | NA | I | DVT | NA | China | NA | PMID: 24028705 |
| 2 | F | 84 | hetero | 54.6 | NA | NA | I | DVT (79, 83) | 79 | China | NA | PMID: 22951146 |
| 3 | F | 84 | hetero | 54.8 | NA | NA | I | Other VTE | 84 | China | NA | PMID: 22944127 |
| 4 | NA | NA | hetero | 27.5 | NA | NA | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| 5 | NA | 33 | hetero | 52.9 | NA | 58.8 | I | DVT | 33 | China | NA | PMID: 22545135 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:525 | |||
| 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 | 45.5 | 52 | 40 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 45.5 | 52 | 40 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 41 | NA | NA | I | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |