| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:565; 743 | |||
| Genome location:Exon7; Exon8 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:0.0952; 0.5727 | Alpha missense prediction class:benign; 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 | NA | c.hetero | 37 | NA | 53 | NA | Other VTE (44) | 44 | China | thrombosis (Other VTE); Oral pill for 10 years+long airline flight | PMID: 15114590 |