| Mutation type:Point | Mutation effect:Missense | Nucleotide number:503 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.1604 | Alpha missense prediction class:benign | ||||
| 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 | F | NA | hetero | 75 | NA | 45 | NA | Other VTE (32) | 32 | Denmark | NA | PMID: 31821907 |
| 2 | F | NA | hetero | 55 | NA | 45 | NA | AT (49) | 49 | Denmark | NA | PMID: 31821907 |
| 3 | M | NA | hetero | 65 | NA | 51 | NA | Other VTE (26) | 26 | Denmark | NA | PMID: 31821907 |
| 4 | M | NA | hetero | 54 | NA | 68 | NA | Other VTE (18, 24) | 18 | Denmark | NA | PMID: 31821907 |