| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1163 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9928 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); 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 | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | 42 | hetero | 51 | 69 | 61 | I | asymptomatic | 42 | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1163 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.8786 | 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 | NA | 23 | hetero | 47 | NA | NA | I | asymptomatic | 23 | France | NA | PMID: 32717757 |
| 2 | M | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Saudi Arabia | NA | PMID: 27843434 |
| 3 | F | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Saudi Arabia | NA | PMID: 27843434 |
| 4 | F | NA | hetero | NA | NA | NA | I | asymptomatic | NA | India | NA | PMID: 16820665 |
| 5 | NA | NA | hetero | NA | 10 | 17 | I | NA | NA | Austria | anticoagulation therapy | PMID: 7482420 |
| 6 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:730; 1162 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1818; 0.7699 | Alpha missense prediction class:benign; 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 | M | NA | double hetero | NA | NA | 32 | I | NA | NA | Turkey | NA | PMID: 9690806 |
| 2 | F | NA | double hetero | NA | NA | 40 | I | NA | NA | Turkey | NA | PMID: 9690806 |
| 3 | NA | NA | double hetero | NA | 35 | 41 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 4 | NA | NA | double hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| 5 | NA | NA | double hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:1163; 1163 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8786; 0.8786 | Alpha missense prediction class:pathogenic; 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 | 6M | homo | <1 | NA | NA | NA | OD (birth, 6M), PF (16M), DIC and BD | 0D | Saudi Arabia | intraocular bleeding (BD), congenital blindness (OD), type I Peters anomaly (OD); consanguineous marriage | PMID: 27843434 |
| 2 | M | 6M | homo | <1 | NA | NA | NA | OD (birth, 6M), PF (16M), DIC and BD | 0D | Saudi Arabia | intraocular bleeding (BD), congenital blindness (OD), type I Peters anomaly (OD); consanguineous marriage | PMID: 27843434 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:658; 1163 | |||
| Genome location:Exon7; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.0663; 0.8786 | 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 | neonate | c.hetero | <1 | NA | NA | I | PF (neonate), BD, severe thrombocytopenia, DIC | 0-1Y | India | hematuria (BD); FFP and vancomycin and ceftazidime, LMWH. He is the first offspring of nonconsanguineous parents who were childless for 11 years. | PMID: 16820665 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:730; 1162 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.1818; 0.7699 | Alpha missense prediction class:benign; 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 | NA | c.hetero | 4 | NA | 3 | I | PF (neonatal) | 0-1y | Turkey | consanguineous marriage | PMID: 9690806 |
| 2 | NA | NA | c.hetero | 65 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |