| Mutation type:Point | Mutation effect:Missense | Nucleotide number:286 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.1237 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 33 | |||||
| Patient information: Monoallelic variation (33); 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 | 46 | NA | 60 | I | Other VTE (23) | 23 | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 2 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 3 | NA | NA | hetero | 45 | NA | 50 | I | Other VTE (18) | 18 | UK | thrombosis (Other VTE) | PMID: 8972002 |
| 4 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 5 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 6 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 7 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 8 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 9 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 10 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 11 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 12 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 13 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 14 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 15 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 16 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 17 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 18 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 19 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 20 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 21 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 22 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 23 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 24 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 25 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 26 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 27 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 28 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 29 | NA | NA | hetero | 72.9 | 65.5 | 66.8 | I | asymptomatic | NA | France | NA | PMID: 32717757 |
| 30 | NA | NA | hetero | NA | 73 | 61 | I | NA | NA | France | NA | PMID: 7482420 |
| 31 | NA | NA | hetero | 65 | 46 | 56 | I | NA | NA | Spain | NA | PMID: 7482420 |
| 32 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| 33 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 7482420 |
| Mutation type:Point | Mutation effect:Missense | Nucleotide number:287 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.1478 | Alpha missense prediction class:benign | ||||
| 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 | 34 | 50 | 44 | I | Other VTE | NA | France | NA | PMID: 32717757 |
| 2 | NA | NA | hetero | 34 | 50 | 44 | I | asymptomatic | NA | France | NA | PMID: 32717757 |