Table 4.
Interactions between the wildtype amino acid residues with other residues. The wildtype amino acids are involved in hydrogen bond and salt bridge with other residues, and the mutations lead to the loss of such interactions.
| Gene | Mutation | Hydrogen bond | Salt bridge |
|---|---|---|---|
| GLB1 | p.Asp441Asn | Arg457, Lys493, Met480, Lys493 | Arg457, Arg482, Lys493, Arg590 |
| GLB1 | p.Asp68Trp | Asp67 | Asp67, Asp342, Asp568 |
| GLB1 | p.Arg148Cys | Glu186 | Glu186, Glu188 and Asp221 |
| GLB1 | p.Arg201Cys | Asp198 | Asp 196, Asp198 |
| GLB1 | p.Tyr270Asp | Glu268 | |
| GLB1 | p.His281Tyr | Asp275 | |
| GLB1 | p.Lys578Arg | Tyr444 | Asp441, Glu478, Glu620 |
| GLB1 | p.Thr82Met | Ile55 | |
| GLB1 | p.Tyr192His | Leu147 | |
| HEXA | p.Arg170Trp | Phe167, Lys197 | Glu114 |
| HEXA | p.Arg178His | Asp175, Asp207, Asp208, Glu323, Glu462 | |
| HEXA | p.Arg499His, p.Arg499Cys | Glu482, Glu498, Glu506 |