| Mutation type:Point | Mutation effect:Missense | Nucleotide number:262 | |||
| Genome location:Exon4 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.4833 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 7 | |||||
| Patient information: Monoallelic variation (7); 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 | 56 | 48 | 45 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 56 | 48 | 45 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 32; 36 | NA | 34 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 4 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 5 | NA | NA | hetero | 47; 52 | NA | 56 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 6 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 7 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:262 | |||
| Genome location:Exon4 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.6058 | Alpha missense prediction class:pathogenic | ||||
| 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 | M | NA | hetero | 64.7 | NA | NA | NA | asymptomatic | NA | China | NA | PMID: 31592240 |
| 2 | M | NA | hetero | 52.8 | NA | NA | NA | asymptomatic | NA | China | NA | PMID: 31521534 |
| Mutation type:Point; Point | Mutation effect:Missense; Splice | Nucleotide number:262; 400 | |||
| Genome location:Exon4; Intron5 | Subdomain:EGF1; NA | ||||
| Alpha missense prediction value:0.6058 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 1D | c.hetero | 0.8 | NA | NA | I | PF (4H), Other VTE (2M died) | 0-1y | China | thrombosis (Other VTE); FFP, LMWH | PMID: 31592240 |
| 2 | F | 1M | c.hetero | 0.6 | NA | NA | I | PF, septicemia | 0-1y | China | NA | PMID: 31521534 |