| Mutation type:Point | Mutation effect:Missense | Nucleotide number:881 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.08 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 26 | |||||
| Patient information: Monoallelic variation (26); 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 | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 125 | 63 | 115 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 125 | 63 | 115 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 104 | 52 | 119 | II | NA | NA | France | NA | PMID: 7482420 |
| 22 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 23 | NA | NA | hetero | 147 | 70 | 140 | II | NA | NA | France | NA | PMID: 7482420 |
| 24 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 25 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |