| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1222 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.0698 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 26 | hetero | 84 | 68 | 69 | I | Postpartal multiple DVT (24, 26) | 24 | Germany | FVL (hetero). Grandmather maternal and paternal with DVT and long-term VKA treatment. | PMID: 32309994 |