| Mutation type:Deletion; Point | Mutation effect:Inframe; Missense | Nucleotide number:688; 1015 | |||
| Genome location:Exon8; Exon9 | Subdomain:Serine protease; Serine protease | ||||
| Alpha missense prediction value:0.8511 | Alpha missense prediction class: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 | M | NA | c.hetero | NA | <10 | NA | I | BD | 0D | Japan | ICTH (BD) | PMID: 28111891 |