| Mutation type:Point | Mutation effect:Missense | Nucleotide number:949 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.5017 | 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 | M | NA | hetero | 39 | NA | 62.1 | II | asymptomatic | NA | China | NA | PMID: 28193339 |
| 2 | F | NA | hetero | 33 | NA | 52.9 | II | pain in legs during pregnancy (21, 23) | 21 | China | NA | PMID: 28193339 |
| 3 | M | NA | hetero | 42 | NA | 73.6 | II | asymptomatic | NA | China | NA | PMID: 28193339 |
| 4 | F | NA | hetero | 35 | NA | 53.5 | II | asymptomatic | NA | China | NA | PMID: 28193339 |
| 5 | F | NA | hetero | 35 | NA | 58.7 | II | asymptomatic | NA | China | NA | PMID: 28193339 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:950 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.5621 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 38 | hetero | 61 | 61 | 52 | I | Other VTE | 38 | France | NA | PMID: 32717757 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:949; 949 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.5017; 0.5017 | Alpha missense prediction class:ambiguous; ambiguous | ||||
| 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 | 19 | homo | 5 | NA | 13.9 | I | DVT | 19 | China | consanguineous marriage | PMID: 28193339 |