| Mutation type:Point | Mutation effect:Missense | Nucleotide number:973 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.2436 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 59 | hetero | 70 | 53 | 67 | IIb | asymptomatic | 59 | Germany | Daughter with PE (24). VKA therapy | PMID: 32309994 |
| 2 | F | 25 | hetero | 50 | 31 | NA | II | PE (24) | 24 | Germany | oral contraceptives | PMID: 32309994 |
| 3 | M | 32 | hetero | 54 | 46 | NA | II | asymptomatic | 32 | Germany | VKA therapy, family history of DVT | PMID: 32309994 |
| 4 | M | 60 | hetero | 66 | 56 | NA | II | DVT (59) | 59 | Germany | antibodies against beta2-glycoprotein | PMID: 32309994 |