Table 1.
Characteristics of the mutations incorporated in our multiplex design
| POSITIONS | Base change | Amino Acid change | Locus | Disease1 |
| 3243 | A>G | tRNA Leu (UUR) | MT-TL1 | MELAS, DM/DMDT, CPEO, MM |
| 3460 | G>A | Ala>Thr | MT-ND1 | LHON |
| 3697 | G>A | Gly>Arg | MT-ND1 | MELAS |
| 3946 | G>A | Glu>Lys | MT-ND1 | MELAS |
| 3949 | T>C | Tyr>Lys | MT-ND1 | MELAS |
| 7445 | A>G | Ter>Ter | MT-CO1 | SNHL |
| 7445 | A>C | Ter>Ser | MT-CO1 | DEAF |
| 8993 | T>G | Leu>Arg | MT-ATP6 | NARP |
| 8993 | T>C | Leu>Pro | MT-ATP6 | NARP, Leigh Disease |
| 9176 | T>C | Leu>Pro | MT-ATP6 | FBSN, Leigh Disease |
| 9176 | T>G | Leu>Arg | MT-ATP6 | Leigh Disease |
| 10158 | T>C | Arg>Pro | MT-ND3 | Leigh Disease |
| 10191 | T>C | Arg>Pro | MT-ND3 | ESOC, Leigh-like Disease |
| 10663 | T>C | Val>Ala | MT-ND4 | LHON |
| 11777 | C>A | Arg>Ser | MT-ND4 | Leigh Disease |
| 11778 | G>A | Arg>His | MT-ND4 | LHON |
| 11832 | G>A | Trp>Ter | MT-ND4 | Exercise Intolerance |
| 12706 | T>C | Phe>Leu | MT-ND5 | Leigh Disease |
| 13513 | G>A | Asp>Asn | MT-ND5 | MELAS, Leigh Disease |
| 13514 | A>G | Asp>Gly | MT-ND5 | MELAS |
| 14459 | G>A | Ala>Val | MT-ND6 | LYDT, Leigh Disease |
| 14482 | C>A | Met>Ile | MT-ND6 | LHON |
| 14482 | C>G | Met>Ile | MT-ND6 | LHON |
| 14484 | T>C | Met>Val | MT-ND6 | LHON |
| 14487 | T>C | Met>Val | MT-ND6 | Dystonia, Leigh Disease |
1 List of some diseases where these mutations are frequently observed: CPEO: Chronic Progressive External Ophthalmoplegia; DEAF Maternally inherited DEAFness or aminoglycoside-induced DEAFness DM: Diabetes Mellitus; LDYT: Leber's hereditary optic neuropathy and DysTonia; LHON: Leber Hereditary Optic Neuropathy; MELAS: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MM: Mitochondrial Myopathy; NARP: Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease; SNHL: SensoriNeural Hearing Loss