| Mutation type:Insertion | Mutation effect:Frameshift | Nucleotide number:552 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 10 | |||||
| Patient information: Monoallelic variation (10); 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 | 40 | 41.1 | 39.6 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 40 | 41.1 | 39.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 40 | 41.1 | 39.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 40 | 41.1 | 39.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 40 | 41.1 | 39.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 40 | 41.1 | 39.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 40 | 41.1 | 39.6 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 21 | NA | 49 | I | NA | NA | Spain | anticoagulation therapy | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:554 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.1659 | Alpha missense prediction class:benign | ||||
| 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 | 78 | hetero | 42 (30-59) | NA | 30 | NA | Other VTE (78), cholecystitis, Clostridium perfringens septicemia | 78 | Japan | VVT (Other VTE); heparin; smoking | PMID: 34056524 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:555 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.3083 | Alpha missense prediction class:benign | ||||
| 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 | 65 | 65 | 78 | I | arterial occlusion (54) | 54 | Japan | subclavian artery occlusion (arterial occlusion) | PMID: 9840027 |