| Mutation type:Point | Mutation effect:Missense | Nucleotide number:325 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.8221 | Alpha missense prediction class:pathogenic | ||||
| 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 | 58.5 | NA | 47.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 58.5 | NA | 47.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 58.5 | NA | 47.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | NA | 33 | 32 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 5 | M | 28 | hetero | 49 | NA | 46 | I | STEMI (28) | 28 | Poland | NA | PMID: 28607330 |
| 6 | M | 28 | hetero | 48; 58 | NA | 46; 59 | I | AMI, severely feverish | NA | Poland | abciximab and unfractionated heparin, clopidogrel enoxaparin and aspirin. empirical antibiotic therapy | PMID: 23643436 |
| 7 | NA | NA | hetero | NA | NA | NA | I | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:326 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.8548 | Alpha missense prediction class:pathogenic | ||||
| 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 | 44 | 38.5 | 48.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 44 | 38.5 | 48.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | NA | 47 | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:325; 565 | |||
| Genome location:Exon5; Exon7 | Subdomain:EGF1; Linker | ||||
| Alpha missense prediction value:0.8221; 0.0952 | Alpha missense prediction class:pathogenic; 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 | M | 49 | c.hetero | NA | NA | PC defect | I | PE (47) | 47 | China | NA | PMID: 37789321 |
| Mutation type:Point; Insertion | Mutation effect:Missense; Frameshift | Nucleotide number:325; 698 | |||
| Genome location:Exon5; Exon8 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.8221 | Alpha missense prediction class:pathogenic | ||||
| 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 | USA | thrombosis (Other VTE) | PMID: 7482420 |