| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1157 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9891 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | hetero | NA | NA | NA | II | NA | NA | China | NA | PMID: 37789321 |
| 2 | NA | NA | hetero | 45.6 | NA | NA | II | DVT | NA | China | NA | PMID: 24028705 |
| 3 | NA | NA | hetero | 44.5 | NA | NA | II | DVT | NA | China | NA | PMID: 24028705 |
| 4 | M | 69 | hetero | 45.6 | NA | 71 | II | DVT (69) | 69 | China | NA | PMID: 22951146 |
| 5 | M | 69 | hetero | 45.6 | NA | NA | II | Other VTE | 69 | China | NA | PMID: 22944127 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:565; 1157 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.0952; 0.9891 | 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 | 58 | c.hetero | NA | NA | PC defect | NA | DVT, PE (42, 56) | 42 | China | NA | PMID: 37789321 |