| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:633 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | F | 31 | hetero | 43 (36-49) | NA | 50 (45-55) | I | DVT (19, 20, 21) | 19 | Portugal | a relatives with VTE | PMID: 25533856 |
| 2 | M | 13 | hetero | 43 (36-49) | NA | 50 (45-55) | I | asymptomatic | 13 | Portugal | a relatives with VTE | PMID: 25533856 |
| 3 | NA | 17 | hetero | 25 | NA | 24 | I | asymptomatic | 17 | Portugal | NA | PMID: 25533856 |