| Mutation type:Point | Mutation effect:Missense | Nucleotide number:752 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.6673 | Alpha missense prediction class:pathogenic | ||||
| 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 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | China | NA | PMID: 37950050 |
| 3 | M | 25 | hetero | 40 | NA | 53 | I | DVT (25) | 25 | China | NA | PMID: 37950050 |
| 4 | F | NA | hetero | NA | NA | NA | I | DVT | NA | China | NA | PMID: 37950050 |
| 5 | F | NA | hetero | 55 | NA | 58 | I | asymptomatic | NA | China | NA | PMID: 36317209 |
| 6 | F | NA | hetero | 49 | NA | 51 | I | asymptomatic | NA | China | NA | PMID: 36317209 |
| 7 | M | 25 | hetero | 40 | NA | 53 | I | DVT (25) | 25 | China | NA | PMID: 35231991 |
| 8 | NA | 34 | hetero | 52 | 50 | 70 | I | Other VTE | 34 | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 47.1 | NA | NA | I | DVT, recurrent Other VTE | NA | China | familly history of VTE | PMID: 24028705 |
| Mutation type:Point; Point; Deletion | Mutation effect:Missense; Missense; Inframe | Nucleotide number:26; 752; 574 | |||
| Genome location:Exon2; Exon8; Exon7 | Subdomain:Signal peptide; Serine protease; Linker | ||||
| Alpha missense prediction value:0.2143; 0.6673 | 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 | 30 | c.hetero | 36 | NA | 57 | I | DVT (28, 30) | 28 | China | PSD | PMID: 22951146 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:26; 752 | |||
| Genome location:Exon2; Exon8 | Subdomain:Signal peptide; Serine protease | ||||
| Alpha missense prediction value:0.2143; 0.6673 | 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 | NA | c.hetero | NA | NA | NA | I | Other VTE | NA | China | MVT (Other VTE) | PMID: 22951146 |
| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:574; 752 | |||
| Genome location:Exon7; Exon8 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.6673 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | 12H | c.hetero | 15 | NA | 11 | I | PF (12H) | 0-1y | China | NA | PMID: 37950050 |
| 2 | M | 12H | c.hetero | 15 | NA | 11 | I | thrombocytopenia (56*109/L) | 0-1y | China | NA | PMID: 36317209 |