| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1180 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1291 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 17 | |||||
| Patient information: Monoallelic variation (17); 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 | NA | hetero | 67 | 54 | 75 | II | DVT | NA | NA | FVL | PMID: 10691853 |
| 2 | F | NA | hetero | 73 | 61 | 84 | II | NA | NA | NA | NA | PMID: 10691853 |
| 3 | M | NA | hetero | 72 | 46 | 87 | II | NA | NA | NA | FVL | PMID: 10691853 |
| 4 | NA | NA | hetero | NA | NA | NA | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 5 | F | 52 | hetero | 87 | 39 | NA | IIb | PE (37) | 37 | Germany | oral contraceptives. mother with stroke (70). | PMID: 32309994 |
| 6 | F | 23 | hetero | 62 | 51.6 | 80 | II | Recurrent miscarriage | 23 | Portugal | NA | PMID: 25533856 |
| 7 | NA | NA | hetero | NA | 51 | 70 | II | NA | NA | France | NA | PMID: 7482420 |
| 8 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | 66 | 73 | 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 | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | New Zealand | NA | PMID: 7482420 |