| Mutation type:Point | Mutation effect:Missense | Nucleotide number:713 | |||
| Genome location:Exon8 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:0.9943 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 1 | |||||
| Patient information: Monoallelic variation (1); 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 | 44 | I | Other VTE (45) | 45 | USA | retinal vein thrombosis (Other VTE) | PMID: 8972002 |
| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:712; 712 | |||
| Genome location:Exon8; Exon8 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.9411; 0.9411 | Alpha missense prediction class:pathogenic; pathogenic | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (0); Biallelic variation (2) | |||||
| 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 | ≤18 | homo | NA | severe PCD (not indicate the value) | NA | NA | Other VTE | ≤18 | Thailand | NA | PMID: 28511552 |
| 2 | NA | ≤18 | homo | NA | severe PCD (not indicate the value) | NA | NA | Other VTE | ≤18 | Thailand | NA | PMID: 28511552 |