| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1234 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1047 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | 67.3 | 62.7 | 63.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 67.3 | 62.7 | 63.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 67.3 | 62.7 | 63.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 67.3 | 62.7 | 63.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | F | 33 | hetero | 76 | 48 | 59 | IIb | Preeclampsia in first pregnancy | 33 | Germany | Grandmother died of PE (56). FVL, delivery. | PMID: 32309994 |
| 6 | F | 23 | hetero | 66 | 50 | NA | NA | asymptomatic | 23 | Germany | additional VK deficiency | PMID: 32309994 |