| Mutation type:Point | Mutation effect:Missense | Nucleotide number:970 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0801 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 16 | |||||
| Patient information: Monoallelic variation (16); 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 | F | 46 | hetero | 54 | NA | 56 | I | Other VTE | 46 | China | MVT (Other VTE) | PMID: 37950050 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 4 | NA | NA | hetero | 50 | 36 | 49.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 50 | 36 | 49.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | F | 61 | hetero | Normal | NA | Normal | I | asymptomatic | 61 | China | NA | PMID: 27517348 |
| 7 | M | NA | hetero | 67 | NA | Normal | I | asymptomatic | NA | China | NA | PMID: 27517348 |
| 8 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | Korea | NA | PMID: 24162787 |
| 9 | NA | NA | hetero | NA | 53 | 53 | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | 82 | NA | 62 | I | NA | NA | UK | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | 55 | NA | 50 | I | NA | NA | UK | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | 32 | 42 | I | NA | NA | Denmark | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:541; 970 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.4146; 0.0801 | Alpha missense prediction class:ambiguous; 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 | 47 | 50 | 45 | I | stroke (58) | 58 | Japan | NA | PMID: 8883262 |
| 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 |