Sample | Mitochondrial DNA Mutations | Mitochondrial DNA mutations localization | Mutation type | Amino Acid substitution | Gene | Variability | DS |
---|---|---|---|---|---|---|---|
B1 | m.4810G >A | BOT | Nonsense | W114X | MT-ND2 | 0.0 | - |
m.15570T >C | BOT + PI | Missense | L275P | MT-CYB | 0.0 | 0.892 | |
B2 | m.3428G >A | BOT | Missense | G41D | MT-ND1 | 0.0 | 0.909 |
m.15219insA | BOT | Frameshift | - | MT-CYB | 0.0 | - | |
B3 | m.11984T >C | BOT + PI | Missense | Y409H | MT-ND4 | 0.002 | 0.764 |
B4 | m.3352G >A | BOT | Missense | A16T | MT-ND1 | 0.0 | 0.827 |
m.15449T >C | BOT + PI | Missense | F235L | MT-CYB | 0.00642 | 0.088 | |
m.16189T >C | BOT + PI | SNP | - | MT-D-loop | 0.767 | - | |
B5 | m.310insC | BOT | Insertion | - | MT-D-loop | 0.215 | - |
m.310delCC | PI | Deletion | - | MT-D-loop | 0.215 | - |