Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study

Table 5 Non-synonymous variants predicted to disrupt gene products associated with oxidative phosphorylation

Position	Variant	Gene	Amino acid variant	MToolBox score	PolyPhen2 score	Mutation taster	SIFT score	High lactate	Normal lactate	MitoMap frequency^a
7080	T>C	COI	Phe393Leu	0.695	0.99	0.99	0.16	0	1	1
8027	G>A	COII	Ala148Thr	0.635	1.00	1.00	0.61	4	3	477
8417	C>T	ATP8	Leu18Phe	0.713	0.99	1.00	0.45	2	0	29
8460	A>G	ATP8	Asn32Ser	0.627	0.97	1.00	0.50	4	1	182
8582	C>T	ATP6	Ala19Val	0.697	1.00	1.00	0.04	0	2	29
8668	T>C	ATP6	Trp48Arg	0.816	1.00	1.00	0.34	0	1	12
9055	G>A	ATP6	Ala177Thr	0.533	0.51	1.00	0.55	1	1	9
10,086	A>G	ND3	Asn10Asp	0.594	0.90	1.00	0.02	9	5	160
11,172	A>G	ND4	Asn138Ser	0.769	0.03	1.00	0.41	4	1	182
12,092	C>A	ND4	Leu445Ile	0.666	0.02	1.00	0.40	0	1	5
12,814	G>A	ND5	Ala160Thr	0.688	0.73	1.00	0.39	0	1	2
13,651	A>G	ND5	Thr439Ala	0.690	0.08	1.00	0.52	1	0	51
13,789	T>C	ND5	Tyr485His	0.714	0.17	1.00	0.50	4	2	720
14,000	T>A	ND5	Leu555Gln	0.675	0.95	1.00	0.31	4	2	465
15,030	T>A	Cyto-b	Phe95Tyr	0.491	0.52	1.00	1.00	2	2	Novel

For each variant, the number of individuals with the variant in the high lactate and normal lactate groups is shown. The frequency of each variant in the MitoMap database for individuals with a predicted L0–L5 haplotype is also shown
^aMitoMap frequency for the L0–L5 haplotypes. A total of 4025 individuals with a predicted L0–L5 haplotype are present in the Mitomap database (https://www.mitomap.org). For MToolBox, PolyPhen2, and Mutation Taster a higher score predicts a disruptive variant. For SIFT, a lower score predicts a disruptive variant

ISSN: 1475-2875