Table 1.
Details of homology modelling for five detected deleterious variants in drug-related genes
| Gene | Transcript ID | Protein ID | Variant | Affected domain | Residues | H-Bonds length to adjacent residues | PDB ID | Template | Template references | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Systematic name | Alternative/protein name | Coverage (%) | Identity (%) | Resolution (Å) | ||||||||||||
| RYR1 | NM_000540.3 | NP_000531.2 | c.5861G > A | p.Arg1954His | – | His1954 (p.R1954H) | Glu1950 | Leu1951 | Leu1958 | Val2070 | Gly2130 | 5GKY | 97 | 96.54 | 3.80 | [45] |
| 2.81 Å | 3.29 Å | 3.06 Å | 3.28 Å | – | ||||||||||||
| 2.65 Å | 3.30 Å | 2.99 Å | – | 2.88 Å | ||||||||||||
| 2.65 Å | ||||||||||||||||
| Arg1954 (WT) | 3.21 Å | |||||||||||||||
| 2.58 Å | ||||||||||||||||
| POLG | NM_002693.3 | NP_002684.1 | c.1760C > T | p.Pro587Leu | linker domain |
Leu87 (p.P87L) Pro87 (WT) |
No H-Bond No H-Bond |
3IKM | 94 | 99.83 | 3.24 | [48] | ||||
| ANXA11 | NM_145868.2 | NP_665875.1 | c.688C > T | p.Arg230Cys | Annexin repeat | Cys230 (p.R230C) | Arg235 | Ser229 | 6TU2 | 62 | 96.51 | 2.30 | – | |||
| 2.71 Å | – | |||||||||||||||
| Arg230 (WT) | 2.71 Å | 2.95 Å | ||||||||||||||
| CCNH | NM_001239.4 | NP_001230.1 | c.809 T > C | p.Val270Ala | C-terminal | Ala270 (p.Val270Aal) | Lys274 | Arg266 | 1KXU | 100 | 100 | 2.6 | [49] | |||
| 2.91 Å | 3.01 Å | |||||||||||||||
| Val270 (WT) | 2.81 Å | 3.06 Å | ||||||||||||||
| CDH23 | NM_022124.6 | NP_071407.4 | c.8311G > A | p.Gly2771Ser |
EC 26 (Extracellular cadherin) |
Ser2771 (p.Gly2771Ser) Gly2771 (WT) |
Glu2773 – 3.07 Å |
5WJM | 39 (of domain) | 41.5 | 2.9 | [50] | ||||