Clinical Phenotypes (non-LHON) Associated with mtDNA rRNA & tRNA Mutations Reported in the Literature

Syndromes	Locus	Disease*	Allele	RNA	Ho*	He*	Status**	References
Encephalomyopathy, Leigh Syndrome	MTTV	LS	C1624T	tRNA Val	+	-	Prov	(85)
Encephalomyopathy, Leigh Syndrome	MTTV	Adult LS	G1644T	tRNA Val	-	+	Prov	(16)
Encephalomyopathy Leigh Syndrome	MTTW	MILS	A5537insT	tRNA Trp	-	+	Prov	(112)
Encephalomyopathy MERRF	MTTK	MERRF	A8344G	tRNA Lys	-	+	Cfrm	(6, 38, 71, 99, 116, 125, 126, 144, 166, 170)
Encephalomyopathy MERRF	MTTK	MERRF	T8356C	tRNA Lys	-	+	Cfrm	(83,129,174)
Encephalomyopathy MERRF	MTTK	MERRF	G8361A	tRNA Lys	-	+	Prov	(107)
Encephalomyopathy MERRF	MTTK	MERRF/MICM+DEAF/Autism	G8363A	tRNA Lys	-	+	Prov	(100,109)
Encephalomyopathy MERRF	MTTL1	MERRF/KSS overlap	G3255A	tRNA Leu (UUR)	-	+	Prov	(97)
Encephalomyopathy MERRF	MTTF	MERRF	G611A	tRNA Phe	-	+	Prov	(76)
Encephalomyopathy Myoclonus and Psychomotor Regression	MTTD	MEPR	A7543G	tRNA Asp	-	+	Prov	(127)
Encephalomyopathy Ataxia, Myoclonus and Deafness	MTTV	AMDF	G1606A	tRNA Val	-	+	Prov	(153)
Encephalomyopathy MERRF	MTTH	MERRF-MELAS / Cerebral edema	G12147A	tRNA His	-	+	Cfrm	(86,147)
Encephalomyopathy MELAS	MTTL1	MELAS	A3243G	tRNA Leu (UUR)	-	+	Cfrm	(19, 24, 31, 38, 47, 55, 61, 68, 69, 102)
Encephalomyopathy MELAS	MTTL1	MELAS	G3244A	tRNA Leu (UUR)	-	+	Prov	(66)
Encephalomyopathy MELAS	MTTL1	MELAS	A3252G	tRNA Leu (UUR)	-	+	Prov	(30,92)
Encephalomyopathy MELAS	MTTL1	MELAS	C3256T	tRNA Leu (UUR)	-	+	Cfrm	(90,113)
Encephalomyopathy MELAS	MTTL1	MELAS/Myopathy	T3258C	tRNA Leu (UUR)	-	+	Prov	(134)
Encephalomyopathy MELAS	MTTL1	MELAS	T3271C	tRNA Leu (UUR)	-	+	Conf	(30, 32, 46, 70, 108, 140, 154)
Encephalomyopathy MELAS	MTTL1	MELAS	T3291C	tRNA Leu (UUR)	-	+	Prov	(30,34)
Encephalomyopathy MELAS	MTTV	MELAS	G1642A	tRNA Val	-	+	Prov	(22)
Encephalomyopathy MELAS	MTTQ	MELAS/Encephalopathy	G4332A	tRNA Gln	-	+	Cfrm	(5)
Encephalomyopathy MELAS	MTTF	MELAS	G583A	tRNA Phe	-	+	Prov	(41)
Encephalomyopathy MELAS	MTRNR2	MELAS	C3093G	16S rRNA	-	+	Prov	(51)
Encephalomyopathy	MTTL1	PEM	T3271delT	tRNA Leu (UUR)	-	+	Prov	(123)
Encephalomyopathy	MTTI	Progressive Encephalopathy	T4290C	tRNA Ile	+	+	Prov	(74)
Encephalomyopathy	MTTI	Mitochondrial Encephalocardiomyopathy	C4320T	tRNA Ile	-	+	Prov	(110)
Encephalomyopathy	MTTW	Encephalomyopathy	G5540A	tRNA Trp	-	+	Prov	(128)
Encephalomyopathy	MTTC	Encephalopathy	T5814C	tRNA Cys	-	+	Prov	(77,135)
Encephalomyopathy	MTTS1	PEM/AMDF	C7472insC	tRNA Ser (UCN)	+	+	Cfrm	(58,59,115,152)
Encephalomyopathy	MTTS1	PEM/MERME	T7512C	tRNA Ser (UCN)	+	+	Prov	(58,59,95)
Encephalomyopathy	MTTK	Encephalopathy	C8302T	tRNA Lys	+	-	Unclear	(134)
Encephalomyopathy	MTTK	Mitochondrial Encephalopathy	G8328A	tRNA Lys	-	+	Prov	(49)
Encephalomyopathy	MTTG	PEM	T10010C	tRNA Gly	-	+	Prov	(8)
Encephalomyopathy	MTATT	Encephalomyopathy	G15915A	tRNA Thr	-	+	Prov	(98,118)
Encephaolmyopathy Rett Syndrome	MTRNR2	Rett Syndrome	C2835T	rRNA 16S	-	+	Prov	(14,142)
Multisystem Disease	MTTI	Varied familial presentation	G4284A	tRNA Ile	-	+	Prov	(20)
Encephalomyopathy Gastrointestinal Reflux and Sudden Infant Death Syndrome	MTTG	GER/SIDS	A10044G	tRNA Gly	-	+	Prov	(111)
Mitochondrial Myopathy	MTTF	MM	T582C	tRNA Phe	-	+	Prov	(93)
Mitochondrial Myopathy	MTTF	MM	T618C	tRNA Phe	-	+	Prov	(67)
Mitochondrial Myopathy	MTTL1	MM	G3242A	tRNA Leu (UUR)	+	-	Prov	(66)
Mitochondrial Myopathy	MTTL1	MM/CPEO	A3243G	TRNA Leu(UUR)	-	+	Cfrm	(60,91)
Mitochondrial Myopathy	MTTL1	MM	A3243T	tRNA Leu(UUR)	-	+	Prov	(121)
Mitochondrial Myopathy	MTTL1	MM/CPEO	T3250C	tRNA Leu (UUR)	-	+	Prov	(33,36)
Mitochondrial Myopathy	MTTL1	MM	A3251G	tRNA Leu (UUR)	-	+	Prov	(139)
Mitochondrial Myopathy	MTTL1	MM	C3254G	tRNA Leu (UUR)	-	+	Prov	(65)
Mitochondrial Myopathy	MTTL1	Myopathy	A3280G	tRNA Leu (UUR)	-	+	Prov	(134)
Mitochondrial Myopathy	MTTL1	Myopathy	A3288G	TRNA Leu(UUR)	-	+	Prov	(37)
Mitochondrial Myopathy	MTTL1	MM	A3302G	tRNA Leu (UUR)	-	+	Cfrm	(9,50)
Mitochondrial Myopathy	MTTI	MM	A4267G	tRNA Ile	-	+	Prov	(148)
Mitochondrial Myopathy	MTTQ	Myopathy	T4370AT	tRNA Gln	-	+	Prov	(23)
Mitochondrial Myopathy	MTTM	MM	T4409C	tRNA Met	-	+	Prov	(165)
Mitochondrial Myopathy	MTTM	MM	G4450A	tRNA Met	-	+	Prov	(135)
Mitochondrial Myopathy	MTTW	MM	G5521A	tRNA Trp	-	+	Prov	(130)
Mitochondrial Myopathy	MTTS1	MM	T7480G	tRNA Ser (UCN)	-	+	Prov	(7)
Mitochondrial Myopathy	MTTS1	MM	G7497A	tRNA Ser (UCN)	+	+	Prov	(59)
Mitochondrial Myopathy	MTTK	Myopathy	T8355C	tRNA Lys	-	+	Prov	(134)
Mitochondrial Myopathy	MTTK	Myopathy	T8362G	tRNA Lys	-	+	Prov	(134)
Mitochondrial Myopathy	MTTG	Myopathy	G10014A	tRNA Gly	+	-	Unclear	(134)
Mitochondrial Myopathy	MTTL2	MM	A12320G	tRNA Leu (CUN)	-	+	Prov	(167)
Mitochondrial Myopathy	MTTE	MM+DM	T14709C	tRNA Glu	-	+	Conf	(40,42,164)
Mitochondrial Myopathy	MTTT	MM	T15940delT	tRNA Thr	+	-	Prov	(119)
Mitochondrial Myopathy	MTTP	MM	C15990T	tRNA Pro	-	+	Prov	(56,89)
Mitochondrial Myopathy, Exercise Intolerance	MTTY	Exercise Intolerance	T5874G	tRNA Tyr	-	+	Prov	(105)
Mitochondrial Myopathy, CPEO	MTTL1	CPEO	C3254T	tRNA Leu (UUR)	+	-	Prov	(66)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	T4274C	tRNA Ile	-	+	Prov	(17)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	T4285C	tRNA Ile	-	+	Prov	(132)
Mitochondrial Myopathy, CPEO	MTTI	CPEO/MS	G4298A	tRNA Ile	-	+	Prov	(146)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	G4309A	tRNA Ile	-	+	Prov	(27)
Mitochondrial Myopathy, CPEO	MTTA	CPEO	T5628C	tRNA Ala	-	+	Prov	(133)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	T5692C	tRNA Asn	-	+	Prov	(94,117,134)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	G5698A	tRNA Asn	-	+	Prov	(134)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	G5703G	tRNA Asn	-	+	Prov	(43,90)
Mitochondrial Myopathy, CPEO	MTTK	CPEO + Myoclonus	G8342A	tRNA Lys	-	+	Prov	(151)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO	G12294A	tRNA Leu (CUN)	-	+	Prov	(104)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO/Stroke/CM	A12308G	tRNA Leu (CUN)	nd	nd	P.M.	(48, 71, 81, 88, 90, 99, 106, 160)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO	T12311C	tRNA Leu (CUN)	+	+	Prov	(44,113)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO	G12315A	tRNA Leu (CUN)	-	+	Prov	(28)
Mitochondrial Myopathy, Ocular Myopathy	MTTL1	Ocular myopathy	T3273C	tRNA Leu (UUR)	-	+	Prov	(13)
Mitochondrial Myopathy, KSS	MTTL1	KSS	G3249A	tRNA Leu (UUR)	-	+	Prov	(120)
Mitochondrial Myopathy Cytopathy	MTTY	Mitochondrial Cytopathy/ FSGS	A5843G	tRNA Tyr	+	-	Prov	(114)
Mitochondrial Myopathy Cytopathy	MTTK	Mitochondrial cytopathy	A8326G	tRNA Lys	-	+	Prov	(169)
Mitochondrial Myopathy Cytopathy	MTTP	Mitochondrial cytopathy	G15995A	tRNA Pro	-	+	Prov	(169)
Mitochondrial Myopathy with Myoglobinuria	MTTF	Myoglobinuria	A606G	TRNA Phe	-	+	Prov	(18)
Mitochondrial Myopathy, Gastrointestinal Syndrome	MTTW	Gastrointestinal Syndrome	G5532A	tRNA Trp	-	+	Prov	(78)
Mitochondrial Myopathy,  Mitochondrial Neurogastrointestinal Encephalomyopathy	MTTK	MNGIE	G8313A	tRNA Lys	-	+	Prov	(163)
Mitochondrial Myopathy with Chronic Intestinal Pseudoobstruction	MTTG	CIPO	A10006G	tRNA Gly	nd	nd	Prov	(71,94)
Mitochondrial Myopathy with Chronic Intestinal Pseudoobstruction	MTTS1	CIPO	C12246G	tRNA Ser (AGY)	nd	nd	Prov	(71,94)
Mitochondrial Myopathy with Renal Dysfunction	MTTF	Tubulointerstitial nephritis	A608G	tRNA Phe	+	-	Prov	(158)
Mitochondrial Myopathy Lethal Infantile Mitochondrial Myopathy	MTTT	LIMM	A15923G	tRNA Thr	nd	-	Prov	(11,171,172)
Mitochondrial Myopathy Lethal Infantile Mitochondrial Myopathy	MTTT	LIMM	A15924G	tRNA Thr	nd	-	P.M.	(11,101,171)
Mitochondrial Myopathy and cardiomyopathy	MTTL1	MMC	A3260G	tRNA Leu (UUR)	-	+	Cfrm	(80,138,173)
Mitochondrial Myopathy and cardiomyopathy	MTTL1	MMC	C3303T	tRNA Leu (UUR)	+	+	Prov	(131)
Maternaly Inherited Hypertrophic Cardiomyopathy	MTTI	MHCM	A4295G	tRNA Ile	-	+	Prov	(87)
Maternally Inherited Cardiomyopathy	MTTI	MICM	A4300G	tRNA Ile	-	+	Prov	(15)
Cardiomyopathy	MTTK	Cardiomyopathy	A8348G	tRNA Lys	-	+	Prov	(149)
Maternally Inherited Hypertrophic Cardiomyopathy	MTTG	MHCM	T9997C	tRNA Gly	nd	+	Prov	(88)
Maternally Inherited Cardiomyopathy	MTTH	MICM	G12192A	tRNA His	+	-	Prov	(122)
Cardiomyopathy	MTTL2	Dilated Cardiomyopathy	T12297C	tRNA Leu (CUN)	-	+	Prov	(35)
Fatal Infantile Cardiomyopathy Plus (MELAS)	MTTI	FICP	A4269G	tRNA Ile	-	+	Prov	(45,143)
Fatal Infantile Cardiomyopathy Plus (MELAS)	MTTI	FICP	A4317G	tRNA Ile	nd	nd	Prov	(57,141)
Deafness	MTRNR1	DEAF	A827G	12S rRNA	+	-	Prov	(73)
Deafness	MTRNR1	DEAF	T961C	12S rRNA	+	-	Prov	(73)
Deafness	MTRNR1	DEAF	T961delT+C(n)ins	12S rRNA	+	+	Prov	(4)
Deafness	MTRNR1	DEAF	T961insC	12S rRNA	+	-	Prov	(4)
Deafness	MTRNR1	DEAF	T1005C	12S rRNA	+	-	Prov	(73)
Deafness Sensory Neural Hearing Loss	MTRNR1	SNHL	T1095C	12S rRNA	+	+	Cfrm	(150)
Deafness	MTRNR1	DEAF	A1116G	12S rRNA	+	-	Prov	(73)
Deafness	MTRNR1	DEAF	C1494T	12S rRNA	+	-	Prov	(175)
Deafness	MTRNR1	DEAF	A1555G	12S rRNA	+	-	Cfrm	(26, 53, 84, 103, 155, 157, 159)
Deafness Sensory Neural Hearing Loss	MTTS1	SNHL	T7510C	tRNA Ser (UCN)	-	+	Prov	(54)
Deafness Sensory Neural Hearing Loss	MTTS1	SNHL	T7511C	tRNA Ser(UCN)	+	+	Prov	(136)
Deafness cerebellar dysfunction	MTTS1	Deafness and Cerebellar Dysfunction	7472insC	tRNA Ser(UCN)	-	+	Prov	(152)
Deafness	MTTH	DEAF + RP	G12183A	tRNA His	-	+	Prov	(21)
Deafness Ataxia and MR	MTTE	Deafness, Mental Retaration, Cerebellar Dysfunction	14709G	tRNA Glu	-	+	Prov	(40)
Diabetes Mellitus	MTRNR1	DM	C1310T	12S	+	-	Prov	(145)
Diabetes Mellitus	MTRNR1	DM	A1438G	12S	+	-	Prov	(145)
Diabetes Mellitus & Deafness	MTTL1	DM / DMDF	A3243G	tRNA Leu (UUR)	-	+	Cfrm	(1, 2, 12, 29, 39, 62, 79, 82, 161, 162)
Diabetes Mellitus	MTTL1	DM	T3264C	tRNALeu (UUR)	-	+	Prov	(137)
Diabetes Mellitus	MTTL1	DM	T3271C	tRNA Leu (UUR)	-	+	Prov	(156)
Diabetes Mellitus Metabolic Syndrome	MTTI	Metabolic Syndrome & Hypomagnesemia	T4291C	tRNA Ile	+	-	Prov	(168)
Diabetes Mellitus & Deafness & Cardiomyopathy	MTTK	DMDF/MERRF/HCM	A8296G	tRNA Lys	-	+	Prov	(3,63,64)
Diabetes Mellitus & Deafness	MTTS2	DMDF	C12258A	tRNA Ser (AGY)		+	Prov	(75)
Movement Disorder	MTTV	Movement Disorder	T1659C	tRNA Val	-	+	Prov	(10)
Alzheimer & Parkinson Disease	MTRNR2	ADPD	G3196A	rRNA 16S	+	+	Prov	(124)
Alzheimer & Parkinson Disease Deafness & Migraine	MTTQ	ADPD/Hearing loss and migraine	T4336C	tRNA Gln	+	_	Unclear	(25,52,72,124)
Dementia and Chorea	MTTW	DEMCHO	G5549A	tRNA Trp	-	+	Prov	(96)

Abbreviations
* Plasmy: Ho, homoplasmy; He, heteroplasmy
* Disease: AD, Alzheimer's Disease; ADPD, Alzheimer's Disease and Parkinsons's Disease; CIPO Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia; CPEO, Chronic Progressive External Ophthalmoplegia; DEMCHO, Dementia and Chorea; DM, Diabetes Mellitus; DMDF Diabetes Mellitus & DeaFness; EXIT, exercise intolerance; FBSN Familial Bilateral Striatal Necrosis; FICP Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy; HCM, Hypertrophic CardioMyopathy; LS, Leigh Syndrome; MELAS, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MERRF Myoclonic Epilepsy and Ragged Red Muscle Fibers; MHCM Maternally Inherited Hypertrophic Cardiomyopathy; MICM Maternally Inherited Cardiomyopathy; MM, mitochondrial myopathy; NAION Nonarteritic Anterior Ischemic Optic Neuropathy; NARP, Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; NIDDM, Non-Insulin Dependent Diabetes Mellitus; SNHL, Sensorineural Hearing Loss.
* *Status: Cfrm, considered confirmed by multiple reports in the literature; Prov, provisional isolated report(s), not yet confirmed by multiple labs; P.M., reported originally in the literature at pathogenic but now generally considered to be a polymorphic variant.

References

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This table is reproduced with permission from PRINCIPLES AND PRACTICE OF MEDICAL GENETICS, 5/e. � 2006 Elsevier Ltd.