| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1154 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8099 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 5 | |||||
| Patient information: Monoallelic variation (5); 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 | 49.2 | 51.6 | 73.6 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 49.2 | 51.6 | 73.6 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 49.2 | 51.6 | 73.6 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 49.2 | 51.6 | 73.6 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 49.2 | 51.6 | 73.6 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1155 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9216 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 9 | |||||
| Patient information: Monoallelic variation (9); 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 | NA | hetero | NA | 45 | 50 | I | DVT (20, 23, 25, 30), PE (20), TIA (45) | 20 | Hungary | NA | PMID: 11091192 |
| 2 | F | NA | hetero | NA | 53 | 48 | I | asymptomatic | NA | Hungary | FVL heterozygous | PMID: 11091192 |
| 3 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | NA | NA | hetero | 52.7 | 63.2 | 88 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 52.7 | 63.2 | 88 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 52.7 | 63.2 | 88 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 52.7 | 63.2 | 88 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | NA | 40 | 15 | II | NA | NA | Austria | anticoagulation therapy | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Austria | NA | PMID: 7482420 |