| NGS | Next-generation sequencing |
| SNV | Single nucleotide variant |
| SAV | Single amino acid variant |
| PPI | Protein-protein interaction |
| HBB | Hemoglobin subunit beta |
| HBZ | Hemoglobin subunit zeta |
| HBA | Hemoglobin subunit alpha |
| HP | Haptoglobin |
| PDB | Protein Data Bank |
| MSA | Multiple Sequence Alignment |
| ASA | Accessible Surface Area |
| NIP | Normalized Interface Propensity |
| HADHA | Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit α |