| Mutation type:Point | Mutation effect:Missense | Nucleotide number:110 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.4413 | Alpha missense prediction class:ambiguous | ||||
| 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 | NA | NA | hetero | 52; 60 | NA | 54 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 2 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 3 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 4 | NA | NA | hetero | NA | NA | NA | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| 5 | NA | NA | hetero | 55; 47 | NA | 55 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |