| Mutation type:Point | Mutation effect:Missense | Nucleotide number:337 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.7839 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 52.7 | 49.5 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 52.7 | 49.5 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 52.7 | 49.5 | 49 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:339 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | M | NA | hetero | 36-42 | NA | 36-42 | I | asymptomatic | NA | India | NA | PMID: 20077116 |
| 2 | F | NA | hetero | 36-42 | NA | 36-42 | I | asymptomatic | NA | India | NA | PMID: 20077116 |
| Mutation type:Deletion; Deletion | Mutation effect:Frameshift; Frameshift | Nucleotide number:339; 339 | |||
| Genome location:Exon5; Exon5 | Subdomain:EGF1; EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 3D | homo | 5 | NA | 3 | I | PF and scrotal hematoma (birth, died on the 27D) | 3D | India | treated with FFP, enoxaparin, vitamin K injections, linezolid, cefotaxime, anticoagulation therapy, consanguineous marriage | PMID: 20077116 |