. 2013 Nov 11;14:118. doi: 10.1186/1471-2350-14-118

Table 2.

List of disease with possible disease-causing alterations detected in patients

Case	Gene	Disease (OMIM)	Mode	Nucleotide change ^a	Protein change	dbSNP rs ID	MAF (%)	HGMD ID	Parental result/patient’s sex	Polyphen2 prediction^b
*RCC subunit and assembly factor*
1	NDUFS2	Mitochondrial complex 1 deficiency (252010)	AR	NM_004550.4 455_457delCTC	Ser152del	---	---	---	Paternal	---
1	NDUFS2	Mitochondrial complex 1 deficiency (252010)	AR	875 T > C	Met292Thr	150667550	<0.01	CM094573	Maternal	Possibly damaging
2	NDUFAF5	Mitochondrial complex 1 deficiency (252010)	AR	NM_024120.4 164A > G	Gln55Arg	---	---	---	Maternal	Probably damaging
				327 + 3A > G		---	---	---	Paternal
*mtDNA synthesis, transcription, translation, mitochondrial biogenesis and dynamic*
3*	MTFMT	Leigh syndrome (256000)	AR	NM_139242.3 626G > A	Ser209Leu	201431517	0.1	CS117162	Paternal	Possibly damaging-
3*	MTFMT	Leigh syndrome (256000)	AR	998G > C	Ser333Ter	---	---		Maternal	---
4	TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type) (603041)	AR	NM_001953.3 1160G > A homozygote	Gly387Asp	---	---	CM055161	---	Probably damaging
*Mitochondrial enzymes*
5*	ETFB	Glutaric acidemia IIB (231680)	AR	NM_001014763.1 235G > A	Val79Ile	140608276	0.4	---	Maternal	Benign
5*	ETFB	Glutaric acidemia IIB (231680)	AR	565C > T	Arg189Cys	147353781	0.3	---	Paternal	Possibly damaging
6	PANK2	HARP syndrome (607236) / Neurodegeneration with brain iron accumulation 1 (234200)	AR	NM_153638.2 137A > T	Asp46Val	148036492	0.2	---	Maternal	Benign
6	PANK2		AR	1561G > A	Gly521Arg	137852959	<0.02	CM014248	Paternal	Probably damaging
7*	PCK2	PEPCK deficiency, mitochondrial (261650)	AR	NM_004563.2 731G > A	Arg244Gln	---	<0.02	---	Not in mother; father not sequenced	Possibly damaging
7*	PCK2	PEPCK deficiency, mitochondrial (261650)	AR	1756G > A	Gly586Ser	61737098	0.4	---	Maternal	Possibly damaging
8*	OTC	Ornithine transcarbamylase deficiency (311250)	X-linked	NM_000531.5 298 + 5G > C hemizygote	---	72554348	0.2	CS063357	Male	---
*Other genes that affect mitochondrial function or that cause similar clinical phenotypes*
9*/13	SPAST	Spastic paraplegia 4 (182601)	AD	NM_014946.3 1625A > G	Asp542Gly	142053576	<0.05	CM054864	---	Benign
10	CLN6	Ceroid lipofuscinosis (CLN) 6 (601780)/ CLN Kufs type (204300)	AR	NM_017882.2 278 T > C	Thr93Met	150001589	<0.04	CM120905	Maternal	Probably damaging
10	CLN6		AR	775G > A	Gly259Ser	150363441	<0.02	CM120905	Paternal	Probably damaging
11	SLC12A3	Gitelman syndrome (263800)	AR	NM_000339.2 322C > T	Arg108Trp	---	---	CM117057	---	Possibly damaging
11	SLC12A3	Gitelman syndrome (263800)	AR	965C > T	Ala322Val	142679083	0.5	CM117024	---	Benign
12*	SLC3A1	Cystinuria (220100)	AR	NM_000341.3 241C > T	Arg81Cys	149813423	<0.02	CM090053	Maternal	Benign
12*	SLC3A1	Cystinuria (220100)	AR	1400 T > C	Met467Thr	121912691	0.4	CM941280	Paternal	Benign

^a All variants listed were heterozygous, except where notated otherwise.

^b Prediction by Polyphen2 HumVar model.

* cases for which abnormal RCC activity and/or muscle pathology were reported.