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

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

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