| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:339 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | NA | hetero | 31 | NA | 41 | I | NA | NA | Austria | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Austria | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:352 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.9473 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 36 | |||||
| Patient information: Monoallelic variation (36); 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 | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 3 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 55.4 | 58 | 50.3 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 54 | NA | 50 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 28 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 29 | NA | NA | hetero | 74 | NA | 64 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 30 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 31 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 32 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 33 | NA | NA | hetero | 57 | NA | 68 | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 34 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 35 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| 36 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Netherlands | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:352 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.5199 | Alpha missense prediction class:ambiguous | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:354 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.9473 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 70 | hetero | 42.8 | NA | <70 | NA | asymptomatic | 70 | Thailand | NA | PMID: 30925296 |
| Mutation type:Point; Point; Point | Mutation effect:Missense; Missense; Missense | Nucleotide number:151; 352; 1067 | |||
| Genome location:Exon3; Exon5; Exon9 | Subdomain:Gla; EGF1; Serine protease | ||||
| Alpha missense prediction value:0.2413; 0.9473; 0.1234 | Alpha missense prediction class:benign; pathogenic; 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 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Deletion; Point | Mutation effect:Frameshift; Missense | Nucleotide number:349; 541 | |||
| Genome location:Exon5; Exon7 | Subdomain:EGF1; Linker | ||||
| Alpha missense prediction value:0.4146 | Alpha missense prediction class: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 | 24 | c.hetero | 9.9 | NA | 9.2 | I | DVT, PE | 24 | China | NA | PMID: 22545135 |
| Mutation type:Point; Deletion | Mutation effect:Missense; Splice | Nucleotide number:352; 679 | |||
| Genome location:Exon5; Intron7 | Subdomain:EGF1; NA | ||||
| Alpha missense prediction value:0.5199 | Alpha missense prediction class: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 | NA | NA | NA | NA | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:352; 1333 | |||
| Genome location:Exon5; Exon9 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.9473; 0.2525 | Alpha missense prediction class:pathogenic; 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 | I | Other VTE | NA | France | thrombosis (Other VTE) | PMID: 10669160 |