| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:388 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | M | NA | hetero | 41 | NA | NA | NA | DVT (41) | 41 | Australia | NA | PMID: 26103879 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:389 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.7756 | 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 | 56 | NA | NA | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 2 | NA | NA | hetero | 40 | NA | NA | NA | Other VTE | NA | Germany | thrombosis (Other VTE) | PMID: 22627591 |
| Mutation type:Deletion; Point | Mutation effect:Frameshift; Missense | Nucleotide number:388; 541 | |||
| Genome location:Exon5; Exon7 | Subdomain:EGF1; Linker | ||||
| Alpha missense prediction value:0.9267 | Alpha missense prediction class: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 | F | 18 | c.hetero | 3-13 | NA | NA | I | multiple DVT (18, recurrent), PE, splenic infarction | 18 | Australia | LMWH, protein C concentrate, anticoagulation therapy, rivaroxaban, below-knee amputation. | PMID: 26103879 |