Table 2.
Mutations in the N-Terminal Region of Hs-BUB1 Associated with Cancer
| Residue Hs-BUB1 | Amino Acid Substitution | Clinical Condition | Reference | Localization in the Structure | Predicted Effect (I-Mutant method, pseudo-ΔΔG, Kcal/mol) |
|---|---|---|---|---|---|
| 36 | E→D | Colorectal cancer | (Cahill et al., 1998) | H2 (TPR1) | Destabilizing (−0.04) |
| 76–141 | Frameshift | Colorectal cancer | (Cahill et al., 1998) | Deletion of H5 (TPR2), H6 and H7 (TPR3) | Destabilizing |
| 130 | A→S | Lymph node metastasis | (Shichiri et al., 2002) | Short-loop region that connects helix H7 (TPR3) with “the capping helix” (H8) | Destabilizing (−0.94) |
| 140 | Transition of the splicing donor site | Colorectal cancer | (Cahill et al., 1998) | Unknown | |
| 151 | H→D | Lung cancer | (Gemma et al., 2000) | Loop region immediately downstream the “capping helix” (H8) | Destabilizing (−0.52) |