Appendix Table 1.
Disease-associated amino acid residues of the human mtDNA helicase. These residues were mapped onto the helicase models presented in Figures 2 and 4.
| Residue | Mutation | Associated disease | References |
|---|---|---|---|
| R303 | R303Q and R303W | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| W315 | W315L and W315S | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| A318 | A318T | Hepatocerebral mtDNA depletion syndrome, infantile-onset spinocerebellar ataxia | (Dundar et al., 2012), (Ji et al., 2014) |
| K319 | K319E and K319T | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| R334 | R334P and R334Q | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| P335 | P335L | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| R354 | R354P | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| R357 | R357P | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| A359 | A359T | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| L360 | L360G | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| A362 | A362P | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| W363 | W363L | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| I367 | I367T | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| S369 | S369P and S369Y | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| F370 | F370C and F370L | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| R374 | R374Q and R374W | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| L378 | L378P | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| L381 | L381P | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| R391 | R391H/N585S | Perrault syndrome | (Morino et al., 2014) |
| F395 | F395L | Renal tubulopathy | (Prasad et al., 2013) |
| S426 | S426N | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| W441 | W441G/V507I | Perrault syndrome | (Morino et al., 2014) |
| N448 | N448D | Autosomal dominant progressive external ophthalmoplegia | (Morino et al., 2014) |
| M455 | M455T | Autosomal dominant progressive external ophthalmoplegia | (Morino et al., 2014) |
| L456 | L456V | Infantile-onset spinocerebellar ataxia | (Dundar et al., 2012), (Ji et al., 2014) |
| T457 | T457I | Hepatocerebral mtDNA depletion syndrome | (Dundar et al., 2012), (Ji et al., 2014) |
| Q458 | Q458H | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| A460 | A460G and A460P | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| R463 | P083S/R463W | Infantile-onset spinocerebellar ataxia | (Hartley et al., 2012) |
| W474 | W474C and W474S | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| A475 | A475D, A475P and A475T | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| F478 | F478I | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| E479 | E479K | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| F485 | F485L | Autosomal dominant progressive external ophthalmoplegia | (Dundar et al., 2012), (Ji et al., 2014) |
| V507 | W441G/V507I | Perrault syndrome | (Morino et al., 2014) |
| Y508 | Y508C | Infantile-onset spinocerebellar ataxia | (Dundar et al., 2012), (Ji et al., 2014) |
| Y537 | Y537H | Autosomal dominant progressive external ophthalmoplegia | (Ji et al., 2014) |
| N585 | R391H/N585S | Perrault syndrome | (Morino et al., 2014) |