| Mutation type:Point | Mutation effect:Missense | Nucleotide number:526 | |||
| Genome location:Exon6 | Subdomain:EGF2 | ||||
| Alpha missense prediction value:0.0807 | Alpha missense prediction class:benign | ||||
| 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 | M | NA | hetero | 57.6 | 43.9 | 62.3 | I | DVT (35), Other VTE (36) | 35 | China | MVT (Other VTE); anticoagulation therapy | PMID: 11243145 |
| 2 | F | NA | hetero | 68 | 56.6 | 66 | I | DVT (19) | 19 | China | anticoagulation therapy | PMID: 11243145 |
| 3 | M | NA | hetero | 58 | 61.7 | 64.6 | I | asymptomatic | NA | China | NA | PMID: 11243145 |
| 4 | M | NA | hetero | 64 | 53 | 70.7 | I | DVT (33) | 33 | China | anticoagulation therapy | PMID: 11243145 |
| 5 | F | NA | hetero | 56.3 | 38.6 | 63.4 | I | asymptomatic | NA | China | NA | PMID: 11243145 |