| Mutation type:Point | Mutation effect:Missense | Nucleotide number:124 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.7265 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 18 | |||||
| Patient information: Monoallelic variation (18); 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 | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 88 | 47.7 | 105.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 130 | 50 | 150 | II | NA | NA | France | NA | PMID: 7482420 |
| 12 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | 36 | 8 | 46 | II | NA | NA | Italy | anticoagulation therapy | PMID: 7482420 |
| 15 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Italy | NA | PMID: 7482420 |
| 16 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Italy | NA | PMID: 7482420 |
| 17 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Italy | NA | PMID: 7482420 |
| 18 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Italy | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:125 | |||
| Genome location:Exon3 | Subdomain:Propeptide | ||||
| Alpha missense prediction value:0.3198 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 27 | |||||
| Patient information: Monoallelic variation (27); 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 | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 2 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 3 | NA | NA | hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 4 | M | NA | hetero | NA | NA | NA | II | DVT (25) | 25 | USA | FVL, hetero | PMID: 9108399 |
| 5 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 109.5 | 46.9 | 94.3 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | M | 37 | hetero | 106 | 49 | NA | IIb | PE and proximal DVT ( 31, 36) | 31 | Germany | Aunt with DVT | PMID: 32309994 |
| 21 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 22 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 31254973 |
| 23 | M | NA | hetero | NA | 43 | 112 | IIb | asymptomatic | NA | Spain | NA | PMID: 16113807 |
| 24 | NA | NA | hetero | 120 | 48 | 114 | II | NA | NA | France | NA | PMID: 7482420 |
| 25 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | NA | NA | NA | II | NA | NA | France | NA | PMID: 7482420 |
| 27 | NA | NA | hetero | NA | 53 | 104 | II | NA | NA | Denmark | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:124; 1218 | |||
| Genome location:Exon3; Exon9 | Subdomain:Propeptide; Serine protease | ||||
| Alpha missense prediction value:0.8811; 0.8981 | Alpha missense prediction class:pathogenic; 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 | neonate | c.hetero | <10 | NA | NA | I | PF (neonate) | 0-1Y | Japan | NA | PMID: 19373522 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:125; 580 | |||
| Genome location:Exon3; Exon7 | Subdomain:Propeptide; Linker | ||||
| Alpha missense prediction value:0.3198; 0.264 | Alpha missense prediction class:benign; benign | ||||
| 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 | NA | c.hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:125; 659 | |||
| Genome location:Exon3; Exon7 | Subdomain:Propeptide; Serine protease | ||||
| Alpha missense prediction value:0.3198; 0.0726 | Alpha missense prediction class:benign; benign | ||||
| 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 | NA | c.hetero | NA | NA | NA | II | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| 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 |