Mitochondrial DNA abnormalities provide mechanistic insight and predict reactive oxygen species-stimulating drug efficacy

Table 1 Summary of the non-synonymous variations and the 3D structural modelling results

Variations	Locus	Complex	Amino Acid change	Sequence	Location	Interaction	Prediction	Occurrences of functional variations	Ref.
T3394C	MT-ND1	I	Y30H	Conserved	Surface	None	Non-functional
T4216C	MT-ND1	I	Y304H	Non-conserved	Surface	None	Non-functional		[39]
A10398G	MT-ND3	I	T114A	Non-conserved	Surface	MT-ND3 & MT-ND1	Functional	Caco-2
T11120C	MT-ND4	I	F121L	Conserved	Surface	MT-ND4 intra-subunit	Functional	PC-3
C12084T	MT-ND4	I	S442F	Conserved	Core	MT-ND4 intra-subunit	Functional	MDA-MB-231
A13681G	MT-ND5	I	T449A	Conserved	Surface	MT-ND5 Intra-subunit	Functional	Caco-2
G13708A	MT-ND5	I	A458T	Conserved	Core	MT-ND5 Intra-subunit	Functional	Caco-2 & PC-3
C13802T	MT-ND5	I	T489M	Conserved	Surface	MT-ND5 Intra-subunit	Functional	PC-3
A13966G	MT-ND5	I	T544A	Conserved	Surface	MT-ND5 Intra-subunit	Functional	MDA-MB-231
C14766T	MT-CYB	III	T7I	Conserved	Surface	None	Non-functional		[39, 40]
A14793G	MT-CYB	III	H16R	Conserved	Surface	None	Non-functional		[39, 40]
T14798C	MT-CYB	III	F18L	Conserved	Surface	Substrate binding site	Functional	Caco-2	[10, 40]
A14927G	MT-CYB	III	T61A	Conserved	Surface	None	Non-functional
A15326G	MT-CYB	III	T194A	Conserved	Surface	None	Non-functional		[39, 40]
C15452A	MT-CYB	III	L236I	Conserved	Surface	None	Non-functional		[39, 40]
G7977C	MT-CO2	IV	G131A	Conserved	Surface	None	Non-functional
A8860G	MT-ATP6	V	T112A	Non-conserved	Surface	None	Non-functional

ISSN: 1471-2407