| Mutation type:Point | Mutation effect:Missense | Nucleotide number:661 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.6467 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 14 | |||||
| Patient information: Monoallelic variation (14); 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 | 49 | hetero | 36 | NA | 24 | I | Other VTE (44) | 44 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | M | NA | hetero | NA | NA | NA | I | Other VTE (42) | 42 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 3 | M | NA | hetero | NA | NA | NA | I | Other VTE (25) | 25 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 5 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 6 | NA | 33 | hetero | NA | NA | 25 | I | Other VTE (29, recurrent) | 29 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 8 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 9 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 10 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 11 | M | NA | hetero | NA | NA | NA | I | Other VTE (40) | 40 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 12 | F | NA | hetero | NA | NA | NA | I | Other VTE (2) | 2 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 13 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |