| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:1331 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | NA | NA | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 44.6 | 45 | 42.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 44.6 | 45 | 42.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 44.6 | 45 | 42.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 44.6 | 45 | 42.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:1332 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9963 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 14 | |||||
| Patient information: Monoallelic variation (14); 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 | 44.5 | 37 | 38.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 44.5 | 37 | 38.5 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 44.5 | 37 | 38.5 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | F | Neonate | hetero | 21 | NA | 26 | I | stroke, ischemia and amputation of the fingers | 0-1y | Portugal | ACT (stroke); a relatives with VT. FVL. History of sedative medication | PMID: 25533856 |
| 5 | F | NA | hetero | 51 (42-59) | NA | 48 (41-55) | I | thrombophlebitis during puerperium | NA | Portugal | FVL | PMID: 25533856 |
| 6 | F | 20 | hetero | 51 (42-59) | NA | 48 (41-55) | I | asymptomatic | 20 | Portugal | FVL | PMID: 25533856 |
| 7 | F | NA | hetero | NA | 44 | 44 | I | asymptomatic | NA | Spain | NA | PMID: 16113807 |
| 8 | NA | NA | hetero | NA | NA | 35 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 9 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 10 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 11 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:125; 1332 | |||
| Genome location:Exon3; Exon9 | Subdomain:Propeptide; Serine protease | ||||
| Alpha missense prediction value:0.3198; 0.9963 | Alpha missense prediction class:benign; 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 | NA | c.hetero | NA | 10 | 55 | I | PF (48H), BD | 2D | Spain | retinal haemorrhages secondary to venous retinal occlusion and vitreous haemorrhage (BD). FFP, and Ceftazidime, protein C concentrate. MTHFR 677C>T | PMID: 16113807 |