| Mutation type:Point | Mutation effect:Missense | Nucleotide number:532 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.3161 | Alpha missense prediction class:benign | ||||
| 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 | M | 17 | hetero | 40 | NA | 51 | I | Other VTE (17) | 17 | China | CVT (Other VTE); Excessive sitting | PMID: 37950050 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 3 | M | 17 | hetero | 40 | NA | 51 | I | Other VTE | 17 | China | CVT (Other VTE) | PMID: 35231991 |
| 4 | M | 17 | hetero | 40 | NA | 51 | I | stroke | 17 | China | intracranial thrombosis (stroke) | PMID: 34261859 |
| 5 | F | 47 | hetero | 60 | NA | 57 | I | asymptomatic | 47 | China | NA | PMID: 34261859 |
| 6 | NA | NA | hetero | 48 | 49.7 | 38 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 48 | 49.7 | 38 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 48 | 49.7 | 38 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:532; 532 | |||
| Genome location:Exon6; Exon6 | Subdomain:EGF2; EGF2 | ||||
| Alpha missense prediction value:0.3161; 0.3161 | Alpha missense prediction class:benign; benign | ||||
| 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 | NA | NA | <1 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 7482420; PMID: 7878626 |
| Mutation type:Point; Point | Mutation effect:Missense; Silent | Nucleotide number:532; 891 | |||
| Genome location:Exon6; Exon9 | Subdomain:EGF2; Serine protease | ||||
| Alpha missense prediction value:0.3161 | Alpha missense prediction class:benign | ||||
| 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 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |