Table 1 SNP missense variants obtained from Sanger sequencing study.
From: The effect of protein mutations on drug binding suggests ensuing personalised drug selection
Residue number | Reference/mutant | Status | Mutant characterization | Commentsa |
|---|---|---|---|---|
384 | L/V | Novel | real | Binding pocket |
387 | L/R | Novel | artefact | Binding pocket |
431 | T/A | Known | artefact | No direct interaction with the ligand |
485 | T/I | Novel | real | Far from binding site; may be important for domain-domain interaction or dimerization |
529 | K/N | Novel | artefact | At the C-terminal of helix H11, which links to the N-terminal of helix H12; may be important for the orientation of H12; not very far from the ligand (~ 7 Å) |
548 | R/P | Novel | artefact | At the C-terminal end of helix H12; may be important for the orientation of H12 |
