| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1130 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.7544 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | NA | hetero | NA | NA | NA | I | NA | NA | China | NA | PMID: 37789321 |
| 2 | NA | 53 | hetero | 56 | 51 | 74 | I | Other VTE | 53 | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | NA | 50 | 50 | I | NA | NA | France | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 5 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | France | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:565; 1130 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.0952; 0.7544 | Alpha missense prediction class:benign; pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (1) | |||||
| Patient | Sex | Age | Genotype | PC: amidolytic act (%) | PC: clotting act (%) | PC: Ag (%) | PCD type | Clinical presentation (age) | First onset age | Country | Comments | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 33 | c.hetero | NA | NA | PC defect | I | DVT, PE (29) | 29 | China | NA | PMID: 37789321 |