| Mutation type:Point | Mutation effect:Missense | Nucleotide number:508 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.1747 | Alpha missense prediction class:benign | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | 65 | NA | NA | NA | DVT | NA | China | NA | PMID: 24028705 |
| 2 | M | 37 | hetero | 64 | NA | 80.9 | NA | DVT (37) | 37 | China | NA | PMID: 22951146 |
| 3 | M | 37 | hetero | 64 | NA | NA | NA | Other VTE | 37 | China | NA | PMID: 22944127 |