| Mutation type:Point | Mutation effect:Missense | Nucleotide number:230 | |||
| Genome location:Exon3 | Subdomain:Gla | ||||
| Alpha missense prediction value:0.1179 | 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 | M | NA | hetero | NA | 55 | 59 | I | DVT (24, 32), PE (32) | 24 | Hungary | NA | PMID: 11091192 |
| 2 | F | NA | hetero | NA | 47 | 50 | I | DVT (22, 25, 28) | 22 | Hungary | NA | PMID: 11091192 |
| 3 | NA | 34 | hetero | 52 | 69 | 59 | I | Other VTE | 34 | France | NA | PMID: 32717757 |