Feature | 2184insA | F508del |
---|---|---|
Mutation Class | Class I (frameshift) | Class II (misfolded protein) |
Molecular Mechanism | Frameshift → truncated protein / NMD | Misfolding → trafficking defect |
Therapeutic Options (2025) | Limited (e.g., readthrough agents) | Approved CFTR modulators |
Prevalence | Rare (<1% CF alleles globally) | Common (~70% of CF alleles) |
Genotype-Phenotype Variability | Moderate variability | High predictability (classic severe) |
Research Funding Focus | Historically underfunded | Prioritized and well-funded |