| Mutation type:Point | Mutation effect:Missense | Nucleotide number:385 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.1555 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | 66.2 | 53.5 | 60.2 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 66.2 | 53.5 | 60.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 66.2 | 53.5 | 60.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 66.2 | 53.5 | 60.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 66.2 | 53.5 | 60.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 66.2 | 53.5 | 60.2 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:386 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.0861 | Alpha missense prediction class:benign | ||||
| 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 | 43 | NA | 46 | I | Other VTE (40) | 40 | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 5 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 6 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | UK | NA | PMID: 8972002 |
| 7 | NA | NA | hetero | 60.5 | 54.4 | 54.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 60.5 | 54.4 | 54.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 60.5 | 54.4 | 54.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 60.5 | 54.4 | 54.8 | IIb | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 60.5 | 54.4 | 54.8 | IIb | asymptomatic | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| 13 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| 14 | NA | NA | hetero | NA | NA | NA | II | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point; Point | Mutation effect:Missense; Splice | Nucleotide number:386; 679 | |||
| Genome location:Exon5; Intron7 | Subdomain:EGF1; NA | ||||
| Alpha missense prediction value:0.0861 | Alpha missense prediction class:benign | ||||
| 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 | F | NA | double hetero | 78 | 77 | 68 | I | asymptomatic | NA | Spain | NA | PMID: 8845458 |
| 2 | M | NA | double hetero | 73 | 53 | 60 | I | asymptomatic | NA | Spain | NA | PMID: 8845458 |
| 3 | F | NA | double hetero | 74 | 60 | 68 | I | asymptomatic | NA | Spain | NA | PMID: 8845458 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:112; 386 | |||
| Genome location:Exon3; Exon5 | Subdomain:Propeptide; EGF1 | ||||
| Alpha missense prediction value:0.1252; 0.0861 | 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; Point; Point | Mutation effect:Missense; Splice; Missense; Splice | Nucleotide number:386; 679; 386; 679 | |||
| Genome location:Exon5; Intron7; Exon5; Intron7 | Subdomain:EGF1; NA; EGF1; NA | ||||
| Alpha missense prediction value:0.0861; 0.0861 | Alpha missense prediction class:benign; benign | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (3) | |||||
| 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 | double homo | 58 | 26 | 52 | I | DVT (21) | 21 | Spain | consanguineous marriage | PMID: 8845458 |
| 2 | F | NA | double homo | 73 | 33 | 64 | II | asymptomatic | NA | Spain | consanguineous marriage | PMID: 8845458 |
| 3 | M | NA | double homo | 64 | 32 | 62 | II | asymptomatic | NA | Spain | consanguineous marriage | PMID: 8845458 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:386; 811 | |||
| Genome location:Exon5; Exon9 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.0861; 0.3452 | Alpha missense prediction class:benign; ambiguous | ||||
| 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 | 70 | 32 | 75 | II | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 7482420 |