| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1318 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.1757 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 9 | |||||
| Patient information: Monoallelic variation (9); 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 | 27 | hetero | 55 | NA | 53 | I | RSA | 27 | China | Pregnancy | PMID: 37950050 |
| 2 | M | NA | hetero | NA | NA | NA | I | stroke | NA | China | NA | PMID: 37950050 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 5 | F | 27 | hetero | 55 | NA | 53 | I | miscarriage (n=2） | 27 | China | NA | PMID: 35231991 |
| 6 | F | 27 | hetero | 55 | NA | 53 | I | Delivery of a baby boy died unexpectedly four months later. miscarriage (n=2). | 27 | China | NA | PMID: 34729752 |
| 7 | F | 77 | hetero | 52 | NA | 55 | I | asymptomatic | 77 | China | NA | PMID: 34729752 |
| 8 | M | 53 | hetero | 48 | NA | 50 | I | asymptomatic | 53 | China | NA | PMID: 34729752 |
| 9 | M | 31 | hetero | 51 | NA | 56 | I | asymptomatic | 31 | China | NA | PMID: 34729752 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1319 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.07 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 54 | NA | 64 | I | NA | NA | UK | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 7482420 |