| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1174 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.5373 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 10 | |||||
| Patient information: Monoallelic variation (10); 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 | 43 | hetero | 68 | 52 | 66.9 | I | PE (42) | 42 | Poland | Apixaban, family history of VTE | PMID: 35627118 |
| 2 | NA | NA | hetero | 66 | 64.5 | 63.3 | IIa | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 66 | 64.5 | 63.3 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 66 | 64.5 | 63.3 | IIa | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 75.3 | NA | NA | NA | DVT | NA | China | NA | PMID: 24028705 |
| 6 | M | 23 | hetero | 65.3 | NA | 75.6 | NA | DVT (23) | 23 | China | Hyperhomocysteinemia | PMID: 22951146 |
| 7 | M | 23 | hetero | 65.3 | NA | NA | NA | Other VTE | 23 | China | NA | PMID: 22944127 |
| 8 | NA | NA | hetero | 58 | 63 | 80 | I | NA | NA | Japan | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | 54 | NA | 68 | I | NA | NA | UK | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |