| Mutation type:Point | Mutation effect:Missense | Nucleotide number:643 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.5609 | Alpha missense prediction class:ambiguous | ||||
| 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 | 45 | hetero | 47 | 54 | 39 | I | Other VTE | 45 | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 55; 47 | NA | 59 | I | personal or family history of Other VTE | NA | Finland | thrombosis (Other VTE) | PMID: 16360797 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:644 | |||
| Genome location:Exon7 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.702 | 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 | M | NA | hetero | NA | 52 | 120 | II | DVT (35), AT (37) | 35 | Hungary | NA | PMID: 11091192 |
| 2 | NA | 36 | hetero | 44 | 43 | 63 | I | asymptomatic | 36 | France | NA | PMID: 32717757 |
| 3 | M | 47 | hetero | 56 | 45.5 | 77 | II | DVT (47) | 47 | Portugal | PROCR c.4600 A>G. Renal transplant patient | PMID: 25533856 |