| Mutation type:Point; Point | Mutation effect:Missense; Missense | Nucleotide number:185; 226 | |||
| Genome location:Exon3; Exon3 | Subdomain:Gla; Gla | ||||
| Alpha missense prediction value:0.7245; 0.0898 | Alpha missense prediction class:pathogenic; benign | ||||
| No. of patients reported: 6 | |||||
| Patient information: Monoallelic variation (6); 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 | double hetero | 115 | 42 | 113 | II | NA | NA | USA | NA | PMID: 7482420 |
| 2 | NA | NA | double hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 3 | NA | NA | double hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 4 | NA | NA | double hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 5 | NA | NA | double hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |
| 6 | NA | NA | double hetero | NA | NA | NA | II | NA | NA | USA | NA | PMID: 7482420 |