Table 2 LHON mtDNA mutations identified in RRMS patients and their deleteriousness prediction.

Patient ID	Gene	Nucleotide change	Amino acid change	Type of mutation	Homoplasmy/heteroplasmy	Category of LHON*	Bioinformatics tools
							PolyPhen	SIFT	CAAD	Mutation assessor
							Prediction/score	Prediction/score	Prediction/score	Prediction/score
P1	MT-ND2	m.4695T>C	p.Phe76Leu	Missense	Homoplasmy	Secondary	Benign/0	Tolerated/0.84	Neutral/0.23	Low/− 0.78
P2	MT-ND2	m.5442T>C	p.Phe325Leu	Missense	Homoplasmy	Secondary	Benign/	Tolerated/0.96	Neutral/− 0.1	Low/− 1.74
	*MT-ND3*	m.10237T>C	p.Ile60Thr	Missense	Heteroplasmy	Rare	Probably damaging/0.96	Damaging/0.09	Damaging/3.33	High/3.86
	MT-ND5	m.13105A>G	p.Ile257Val	Missense	Homoplasmy	Secondary	Benign/0.01	Tolerated/0.52	Neutral/− 0.58	Low/− 0.72
	*MT-ND6*	m.14484T>C	p.Met64Val	Missense	Homoplasmy	Primary	Probably damaging/0.99	Damaging/0.19	Damaging/0.89	High/3.06
P15	*MT-ATP6*	m.9101T>C	p.Ile192Thr	Missense	Homoplasmy	Rare	Benign/0.01	Tolerated/1	Neutral/− 1.09	Low/− 1.17
P15	MT-ND5	m.12358A>G	p.Thr8Ala	Missense	Homoplasmy	Secondary	Benign/0	Tolerated/0.47	Neutral/0.34	Medium/1.04
P16	MT-ND2	m.4917A>G	p.Asn150Asp	Missense	Homoplasmy	Secondary	Benign/0.06	Tolerated/0.22	Neutral/0.7	Moderate/1.4
P18	MT-ND1	m.3316G>A	p.Ala4Thr	Missense	Homoplasmy	Secondary	Benign/0	Tolerated/0.48	Neutral/1.04	Low/− 0.76
P22	MT-ND1	m.3533C>T	p.Thr76Ile	Missense	Homoplasmy		Benign/0.02	Tolerated/0.56	Neutral/0.12	Low/0.12

LHON Leber’s hereditary optic neuropathy, RRMS relapse-remitting multiple sclerosis, EDSS Expanded Disability Status Scale. *LHON Mutations were reported as primary or rare (bold) and secondary according to MITOMAP, HmtDB, ClinVar and MEDLINE-listed publications on life sciences. PolyPhen Polymorphism Phenotyping, SIFT Sorting Intolerant From Tolerant, CADD Combined Annotation Dependent Depletion.

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