| Mutation type:Point | Mutation effect:Missense | Nucleotide number:580 | |||
| Genome location:Exon7 | Subdomain:Linker | ||||
| Alpha missense prediction value:0.264 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 24 | |||||
| Patient information: Monoallelic variation (24); 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 | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 76.8 | 59 | 83.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | M | 65 | hetero | Normal | NA | Normal | II | asymptomatic | 65 | China | NA | PMID: 27517348 |
| 22 | M | NA | hetero | Normal | NA | Normal | II | asymptomatic | NA | China | NA | PMID: 27517348 |
| 23 | M | NA | hetero | Normal | NA | Normal | II | asymptomatic | NA | China | NA | PMID: 27517348 |
| 24 | NA | NA | hetero | NA | 58 | 85 | II | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:125; 580 | |||
| Genome location:Exon3; Exon7 | Subdomain:Propeptide; Linker | ||||
| Alpha missense prediction value:0.3198; 0.264 | 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 | c.hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:580; 1015 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.264; 0.8511 | Alpha missense prediction class:benign; 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 | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:580; 970 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.264; 0.0801 | 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 | M | 38 | c.hetero | 25 | NA | 113.7 | II | DVT, Other VTE (38) | 38 | China | CVT (Other VTE); LMWH, anticoagulation therapy. long-term immobilization | PMID: 27517348 |