| Mutation type:Deletion | Mutation effect:Frameshift | Nucleotide number:1353 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | M | NA | hetero | NA | NA | NA | NA | NA | NA | China | NA | PMID: 37789321 |
| Mutation type:Deletion; Deletion | Mutation effect:Inframe; Frameshift | Nucleotide number:574; 1353 | |||
| Genome location:Exon7; Exon9 | Subdomain:Linker; Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| 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 | 36 | c.hetero | 40 | NA | PC defect | NA | DVT (32) | 32 | China | NA | PMID: 37789321 |