| Mutation type:Point | Mutation effect:Nonsense | Nucleotide number:1048 | |||
| Genome location:Exon9 | Subdomain:Serine protease | ||||
| Alpha missense prediction value:— | Alpha missense prediction class:— | ||||
| No. of patients reported: 2 | |||||
| Patient information: Monoallelic variation (2); 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 | asymptomatic | NA | India | NA | PMID: 24158118 |
| 2 | F | NA | hetero | NA | NA | NA | NA | asymptomatic | NA | India | NA | PMID: 24158118 |
| Mutation type:Point; Point | Mutation effect:Nonsense; Nonsense | Nucleotide number:1048; 1048 | |||
| Genome location:Exon9; Exon9 | Subdomain:Serine protease; 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 | F | 6D | homo | 1 | NA | NA | NA | PF, OD (2D), DIC (deceased) | 2D | India | congenital blindness (OD); FFP, cryoprecipitate and platelet transfusion, heparin. consanguineous marriage | PMID: 24158118 |