| Mutation type:Point | Mutation effect:Missense | Nucleotide number:91 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.0829 | Alpha missense prediction class:benign | ||||
| 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 | F | 28 | hetero | 60 | NA | 65 | I | Other VTE | 28 | India | EHVT and EHPVO (Other VTE) | PMID: 22576310 |
| 2 | F | 28 | hetero | NA | NA | 65 | I | Other VTE (28) | 28 | India | EHPVO (Other VTE) | PMID: 19350130 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:93 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.1341 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | 53.5 | 60 | 50.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 53.5 | 60 | 50.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 53.5 | 60 | 50.7 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 53.5 | 60 | 50.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |