| Mutation type:Point | Mutation effect:Missense | Nucleotide number:313 | |||
| Genome location:Exon5 | Subdomain:EGF1 | ||||
| Alpha missense prediction value:0.8797 | Alpha missense prediction class:pathogenic | ||||
| No. of patients reported: 3 | |||||
| Patient information: Monoallelic variation (3); 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 | F | 42 | hetero | 59 (48-74) | NA | 60 (50-76) | I | stroke (42) | 42 | Portugal | Dyslipidemia | PMID: 25533856 |
| 2 | NA | NA | hetero | 59 (48-74) | NA | 60 (50-76) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |
| 3 | NA | NA | hetero | 59 (48-74) | NA | 60 (50-76) | I | asymptomatic | NA | Portugal | NA | PMID: 25533856 |