| Mutation type:Point | Mutation effect:Missense | Nucleotide number:859 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0567 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 17 | hetero | 77 | 68 | 69 | I | asymptomatic | 17 | Germany | mother and grandmother with DVT. FVL | PMID: 32309994 |
| 2 | F | 62 | hetero | 130 | 135 | 104 | NA | DVT (61) | 61 | Germany | sister with PE. heterozygous FVL | PMID: 32309994 |
| 3 | F | 75 | hetero | 146 | 101 | NA | NA | asymptomatic | 75 | Germany | family history of DVT | PMID: 32309994 |