| Mutation type:Point | Mutation effect:Missense | Nucleotide number:439 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.9777 | 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 | 30 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:440 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.9769 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 11 | |||||
| Patient information: Monoallelic variation (11); 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 | 39 | NA | 34 | I | Other VTE (26) | 26 | USA | thrombosis (Other VTE) | PMID: 8972002 |
| 2 | M | NA | hetero | 50 | NA | 34 | I | asymptomatic | NA | USA | NA | PMID: 8972002 |
| 3 | F | NA | hetero | 47 | NA | 33 | I | asymptomatic | NA | USA | NA | PMID: 8972002 |
| 4 | F | NA | hetero | 52 | NA | 32 | I | asymptomatic | NA | USA | NA | PMID: 8972002 |
| 5 | F | 30 | hetero | 52 | NA | 42 | I | DVT | 30 | Japan | NA | PMID: 19373522 |
| 6 | NA | NA | hetero | NA | NA | 50 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 7 | NA | NA | hetero | 31 | NA | 39 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 8 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:441 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | 36 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |