| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1151 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.5159 | Alpha missense prediction class:ambiguous | ||||
| 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 | F | 22 | hetero | 80 | 65 | NA | II | asymptomatic | 22 | Germany | NA | PMID: 32309994 |
| 2 | M | 57 | hetero | 71 | 51 | 103 | IIb | asymptomatic | 57 | Germany | FVL (hetero) | PMID: 32309994 |
| 3 | M | 20 | hetero | 66 | 45 | NA | IIb | asymptomatic | 20 | Germany | NA | PMID: 32309994 |
| 4 | F | 83 | hetero | 84 | 59 | NA | IIb | DVT (73, 82), APS | 73 | Germany | NA | PMID: 32309994 |
| 5 | NA | NA | hetero | NA | 50 | NA | I | NA | NA | Germany | NA | PMID: 7482420 |