| Mutation type:Deletion | Mutation effect:Inframe | Nucleotide number:356 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 37 | I | NA | NA | USA | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:358 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.9091 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 4 | |||||
| Patient information: Monoallelic variation (4); 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 | NA | 40 | I | NA | NA | UK | NA | PMID: 7482420 |
| 2 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 3 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| 4 | NA | NA | hetero | NA | NA | NA | I | NA | NA | UK | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:360 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| 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 | F | 53 | hetero | 43 | 45 | 49 | I | asymptomatic | 53 | Italy | NA | PMID: 8822929 |
| 2 | M | 20 | hetero | 34 | 40 | 40 | I | asymptomatic | 20 | Italy | NA | PMID: 8822929 |
| 3 | NA | NA | hetero | 46.7 | 46.7 | 42.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 4 | NA | NA | hetero | 46.7 | 46.7 | 42.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 46.7 | 46.7 | 42.7 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Missense | Nucleotide number:360; 1112 | |||
| Genome location:Exon5; Exon9 | Subdomain:EGF1; Serine protease | ||||
| Alpha missense prediction value:0.0858 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | 22 | c.hetero | 24 | 22 | 30 | I | DVT | 22 | Italy | oral contraceptive treatment | PMID: 8822929 |
| 2 | F | 22 | c.hetero | 23 | 22 | 29 | I | asymptomatic | 22 | Italy | NA | PMID: 8822929 |