| Mutation type:Point | Mutation effect:Missense | Nucleotide number:497 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.9345 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 35 | |||||
| Patient information: Monoallelic variation (35); 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 | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 2 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 3 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 4 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 5 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 6 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 7 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 8 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 9 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 10 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 11 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 31254973 |
| 12 | NA | NA | hetero | NA | 50 | 40 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 13 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 14 | NA | NA | hetero | NA | 44 | 38 | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 15 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 16 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 17 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 18 | NA | 33 | hetero | NA | NA | NA | I | PE (31) | 31 | Spain | NA | PMID: 31254973 |
| 19 | NA | 32 | hetero | NA | NA | NA | I | Other VTE (28) | 28 | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 20 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 21 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 22 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 23 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 24 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 25 | NA | NA | hetero | NA | NA | NA | I | Other VTE | NA | Spain | thrombosis (Other VTE) | PMID: 31254973 |
| 26 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 27 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 28 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 29 | M | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 30 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 31 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 32 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 33 | NA | NA | hetero | NA | NA | NA | I | NA | NA | Spain | NA | PMID: 31254973 |
| 34 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 7482420; PMID: 6548587 |
| 35 | NA | NA | hetero | NA | NA | NA | I | asymptomatic | NA | Spain | NA | PMID: 7482420; PMID: 6548587 |
| Mutation type:Point; Point | Mutation effect:Missense; Nonsense | Nucleotide number:497; 520 | |||
| Genome location:Exon6; Exon6 | Subdomain:EGF2; EGF2 | ||||
| Alpha missense prediction value:0.9345 | Alpha missense prediction class: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 | NA | 1Y | c.hetero | NA | NA | <1 | I | PF, DIC | 1Y | Spain | anticoagulation therapy | PMID: 7482420; PMID: 6548587 |