| Mutation type:Point | Mutation effect:Missense | Nucleotide number:833 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.7177 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 11 | |||||
| Patient information: Monoallelic variation (11); 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 | M | 55 | hetero | 35 | NA | 44 | I | DVT (55) | 55 | China | NA | PMID: 37950050 |
| 2 | M | NA | hetero | NA | NA | NA | I | Other VTE (deceased) | NA | China | CVT (Other VTE) | PMID: 37950050 |
| 3 | M | NA | hetero | NA | NA | NA | I | DVT | NA | China | NA | PMID: 37950050 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 5 | M | NA | hetero | NA | NA | 50 | I | asymptomatic | NA | China | NA | PMID: 37906136 |
| 6 | M | 55 | hetero | 35 | NA | 44 | I | DVT (55) | 55 | China | His father died of CVST. | PMID: 35231991 |
| 7 | M | 55 | hetero | 35 | NA | 44 | I | DVT (55) | 55 | China | NA | PMID: 34261859 |
| 8 | M | NA | hetero | NA | NA | NA | I | Other VTE (died at the age of 50) | 50 | China | CVT (Other VTE) | PMID: 34261859 |
| 9 | M | 51 | hetero | 47 | NA | 51 | I | asymptomatic | 51 | China | NA | PMID: 34261859 |
| 10 | F | 25 | hetero | 46 | NA | 52 | I | asymptomatic | 25 | China | NA | PMID: 34261859 |
| 11 | M | 26 | hetero | 41 | NA | 49 | I | asymptomatic | 26 | China | NA | PMID: 34261859 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Missense | Nucleotide number:818; 833 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.7177 | Alpha missense prediction class: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 | NA | 0-1Y | c.hetero | NA | NA | NA | I | BD, heart failure (neonate) | 0-1y | China | ICH (BD) | PMID: 37906136 |