MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations

MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases:
rRNA/tRNA mutations
*Last edited May 05, 2008*
Locus	Disease	Allele	RNA	Homo- plasmy	Hetero- Plasmy	Status	References
MT-TF	*Mitochondrial Myopathy	T582C	tRNA Phe	-	+	Reported	references
MT-TF	*MELAS / MM & EXIT	G583A	tRNA Phe	-	+	Cfrm	references
MT-TF	*Myoglobinuria	A606G	tRNA Phe	+	+	Unclear	references
MT-TF	*Tubulointerstitial nephritis	A608G	tRNA Phe	+	-	Reported	references
MT-TF	*MERRF	G611A	tRNA Phe	-	+	Reported	references
MT-TF	*MM	T618C	tRNA Phe	-	+	Reported	references
MT-TF	*EXIT & Deafness	G622A	tRNA Phe	-	+	Reported	references
MT-RNR1	*DEAF	A827G	12S rRNA	+	-	Under Review	references
MT-RNR1	*DEAF	T961C	12S rRNA	+	-	Under Review	references
MT-RNR1	*DEAF	T961delT+C(n)ins	12S rRNA	+	+	Under Review	references
MT-RNR1	*DEAF	T961insC	12S rRNA	+	-	Under Review	references
MT-RNR1	*DEAF	T1005C	12S rRNA	+	-	Under Review	references
MT-RNR1	*SNHL	T1095C	12S rRNA	+	+	Under Review	references
MT-RNR1	*DEAF	A1116G	12S rRNA	+	-	Reported	references
MT-RNR1	*DEAF	C1494T	12S rRNA	+	-	Cfrm	references
MT-RNR1	*DEAF	A1517C	12S rRNA	-	+	Reported	references
MT-RNR1	*DEAF	A1555G	12S rRNA	+	-	Cfrm	references
MT-TV	*AMDF	G1606A	tRNA Val	-	+	Cfrm	references
MT-TV	*Leigh Syndrome	C1624T	tRNA Val	+	-	Reported	references
MT-TV	*MELAS	G1642A	tRNA Val	-	+	Reported	references
MT-TV	*Adult Leigh Syndrome	G1644T	tRNA Val	-	+	Reported	references
MT-TV	*Movement Disorder	T1659C	tRNA Val	-	+	Reported	references
MT-RNR2	*Rett Syndrome	C2835T	16S rRNA	-	+	Reported	references
MT-RNR2	*MELAS	C3093G	16S rRNA	-	+	Reported	references
MT-RNR2	*ADPD	G3196A	16S rRNA	+	+	Reported	references
MT-TL1	*MM	G3242A	tRNA Leu (UUR)	+	-	Reported	references
MT-TL1	*MELAS	A3243G	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*DMDF	A3243G	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*CPEO / MM	A3243G	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*MM	A3243T	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MELAS	G3244A	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*KSS	G3249A	tRNA Leu(UUR)	-	+	Reported	references
MT-TL1	*MM / CPEO	T3250C	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MM	A3251G	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MELAS	A3252G	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MM	C3254G	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*CPEO	C3254T	tRNA Leu (UUR)	+	-	Reported	references
MT-TL1	*MERRF/KSS overlap	G3255A	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MELAS	C3256T	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*MELAS/Myopathy	T3258C	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MMC	A3260G	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*DM	T3264C	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MELAS	T3271C	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*DM	T3271C	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*PEM	T3271delT	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*Ocular myopathy	T3273C	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*LHON	C3275A	tRNA Leu (UUR)	+	-	Reported	references
MT-TL1	*Myopathy	A3280G	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*Myopathy	A3288G	tRNA Leu (UUR)	-	+	Reported	references
MT-TL1	*MELAS	T3291C	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*MM	A3302G	tRNA Leu (UUR)	-	+	Cfrm	references
MT-TL1	*MMC	C3303T	tRNA Leu (UUR)	+	+	Cfrm	references
MT-TI	*MM/CPEO	A4267G	tRNA Ile	-	+	Reported	references
MT-TI	*FICP	A4269G	tRNA Ile	-	+	Reported	references
MT-TI	*CPEO/Motor Neuron Disease	T4274C	tRNA Ile	-	+	Reported	references
MT-TI	*Varied familial presentation	G4284A	tRNA Ile	-	+	Reported	references
MT-TI	*CPEO	T4285C	tRNA Ile	-	+	Reported	references
MT-TI	*Progressive Encephalopathy	T4290C	tRNA Ile	+	+	Reported	references
MT-TI	*Hypomagnesemic Metabolic Syndrome	T4291C	tRNA Ile	+	-	Reported	references
MT-TI	*MHCM	A4295G	tRNA Ile	-	+	Reported	references
MT-TI	*CPEO / MS	G4298A	tRNA Ile	-	+	Cfrm	references
MT-TI	*MICM	A4300G	tRNA Ile	+	+	Cfrm	references
MT-TI	*CPEO	G4309A	tRNA Ile	-	+	Reported	references
MT-TI	*FICP	A4317G	tRNA Ile	nd	nd	Reported	references
MT-TI	*Mitochondrial Encephalocardiomyopathy	C4320T	tRNA Ile	-	+	Reported	references
MT-TQ	*Encephalopathy / MELAS	G4332A	tRNA Gln	-	+	Cfrm	references
MT-TQ	*ADPD/Hearing Loss &Migraine	T4336C	tRNA Gln	+	+	Unclear	references
MT-TQ	*Myopathy	T4370AT	tRNA Gln	-	+	Reported	references
MT-TQ	*LHON	A4381G	tRNA Gln	+	-	Reported	references
MT-TM	*MM	T4409C	tRNA Met	-	+	Reported	references
MT-TM	*LHON modulator	A4435G	tRNA Met	+	-	Reported	references
MT-TM	*Myopathy	G4450A	tRNA Met	-	+	Reported	references
MT-TW	*MM	G5521A	tRNA Trp	-	+	Reported	references
MT-TW	*Gastrointestinal Syndrome	G5532A	tRNA Trp	-	+	Reported	references
MT-TW	*Leigh Syndrome	A5537insT	tRNA Trp	-	+	Cfrm	references
MT-TW	*Encephalomyopathy	G5540A	tRNA Trp	-	+	Reported	references
MT-TW	*DEMCHO	G5549A	tRNA Trp	-	+	Reported	references
MT-TA	*Myopathy	G5591A	tRNA Ala	-	+	Reported	references
MT-TA	*CPEO / DEAF helper mutation	T5628C	tRNA Ala	-	+	Reported	references
MT-TA	*Myopathy	G5650A	tRNA Ala	-	+	Reported	references
MT-TA	*DEAF modulator	T5655C	tRNA Ala	+	-	Reported	references
MT-TN	*CPEO / MM	T5692C	tRNA Asn	-	+	Reported	references
MT-TN	*CPEO / MM	G5698A	tRNA Asn	-	+	Reported	references
MT-TN	*CPEO / MM	G5703A	tRNA Asn	-	+	Cfrm	references
MT-TN	*Multiorgan failure	T5728C	tRNA Asn	-	+	Reported	references
MT-TC	*SNHL	G5780A	tRNA Cys	-	+	Reported	references
MT-TC	*Myopathy deafness	G5783A	tRNA Cys	-	+	Reported	references
MT-TC	*Mitochondrial Encephalopathy	T5814C	tRNA Cys	-	+	Cfrm	references
MT-TC	*Progressive Dystonia	A5816G	tRNA Cys	+	-	Reported	references
MT-TY	*FSGS / Mitochondrial Cytopathy	A5843G	tRNA Tyr	+	-	Reported	references
MT-TY	*EXIT	T5874G	tRNA Tyr	-	+	Reported	references
MT-TS1 precursor	*DEAF	A7445C	tRNA Ser (UCN) precursor	+	-	Reported	references
MT-TS1 precursor	*SNHL	A7445G	tRNA Ser (UCN) precursor	+	+	Cfrm	references
MT-TS1	*PEM / AMDF	C7472insC	tRNA Ser (UCN)	+	+	Cfrm	references
MT-TS1	*MM	T7480G	tRNA Ser (UCN)	-	+	Reported	references
MT-TS1	*MM / EXIT	G7497A	tRNA Ser (UCN)	+	+	Cfrm	references
MT-TS1	*PEO with hearing loss	G7506A	tRNA Ser (UCN)	-	+	Reported	references
MT-TS1	*SNHL	T7510C	tRNA Ser (UCN)	-	+	Reported	references
MT-TS1	*SNHL	T7511C	tRNA Ser (UCN)	+	+	Cfrm	references
MT-TS1	*PEM / MERME	T7512C	tRNA Ser (UCN)	+	+	Reported	references
MT-TD	*MEPR	A7543G	tRNA Asp	-	+	Reported	references
MT-TK	*DMDF / MERRF/ HCM	A8296G	tRNA Lys	+	+	Reported	references
MT-TK	*Encephalopathy	A8302T	tRNA Lys	+	-	Unclear	references
MT-TK	*MNGIE	G8313A	tRNA Lys	-	+	Reported	references
MT-TK	*MELAS	T8316C	tRNA Lys	-	+	Reported	references
MT-TK	*Mitochondrial cytopathy	A8326G	tRNA Lys	-	+	Reported	references
MT-TK	*Mitochondrial Encephalopathy	G8328A	tRNA Lys	-	+	Reported	references
MT-TK	*PEO and Myoclonus	G8342A	tRNA Lys	-	+	Reported	references
MT-TK	*MERRF	A8344G	tRNA Lys	-	+	Cfrm	references
MT-TK	*Cardiomyopathy	A8348G	tRNA Lys	-	+	Reported	references
MT-TK	*Myopathy	T8355C	tRNA Lys	-	+	Reported	references
MT-TK	*MERRF	T8356C	tRNA Lys	-	+	Cfrm	references
MT-TK	*MERRF	G8361A	tRNA Lys	-	+	Reported	references
MT-TK	*Myopathy	T8362G	tRNA Lys	-	+	Reported	references
MT-TK	*MICM + DEAF / MERRF / Autism	G8363A	tRNA Lys	-	+	Cfrm	references
MT-TG	*MHCM	T9997C	tRNA Gly	nd	+	Reported	references
MT-TG	*CIPO / Encephalopathy	A10006G	tRNA Gly	+	-	Unclear	references
MT-TG	*PEM	T10010C	tRNA Gly	-	+	Cfrm	references
MT-TG	*Myopathy	G10014A	tRNA Gly	+	-	Unclear	references
MT-TG	*GER / SIDS	A10044G	tRNA Gly	-	+	Reported	references
MT-TR	*Mitochondrial Myopathy	G10406A	tRNA Arg	-	+	Reported	references
MT-TR	*Progressive Encephalopathy	A10438G	tRNA Arg	-	+	Reported	references
MT-TH	*MERRF-MELAS / Cerebral edema	G12147A	tRNA His	-	+	Cfrm	references
MT-TH	*RP + DEAF	G12183A	tRNA His	-	+	Reported	references
MT-TH	*MICM	G12192A	tRNA His	+	-	Reported	references
MT-TS2	*Myopathy / Encephalopathy	G12207A	tRNA Ser (AGY)	-	+	Reported	references
MT-TS2	*CIPO	C12246A	tRNA Ser (AGY)	nd	nd	Reported	references
MT-TS2	*DMDF	C12258A	tRNA Ser (AGY)	-	+	Reported	references
MT-TL2	*CPEO	G12294A	tRNA Leu (CUN)	-	+	Reported	references
MT-TL2	*Dilated Cardiomyopathy	T12297C	tRNA Leu (CUN)	-	+	Reported	references
MT-TL2	*MELAS	A12299C	tRNA Leu (CUN)	-	+	Reported	references
MT-TL2	*3243 suppressor mutant	G12300A	tRNA Leu (CUN)	-	+	Cell culture results	references
MT-TL2	*CPEO / Stroke / CM / Renal & Prostate Cancer Risk	A12308G	tRNA Leu (CUN)	+	+	Haplogroup U marker	references
MT-TL2	*CPEO	T12311C	tRNA Leu (CUN)	+	+	Reported	references
MT-TL2	*CPEO/KSS	G12315A	tRNA Leu (CUN)	-	+	Cfrm	references
MT-TL2	*MM	A12320G	tRNA Leu (CUN)	-	+	Reported	references
MT-TE	*Mitochondrial myopathy w respiratory failure	A14687G	tRNA Glu	+	-	Reported	references
MT-TE	*MELAS	A14693G	tRNA Glu	+	+	Reported	references
MT-TE	*Progressive Encephalopathy	A14696G	tRNA Glu	-	+	Reported	references
MT-TE	*MM+DM / Encephalomyopathy	T14709C	tRNA Glu	+	+	Cfrm	references
MT-TE	*Mitochondrial leukoencephalopathy	G14724A	tRNA Glu	-	+	Reported	references
MT-TE	*EXIT	G14739A	tRNA Glu	-	+	Reported	references
MT-TT	*Encephalomyopathy	G15915A	tRNA Thr	-	+	Reported	references
MT-TT	*LIMM	A15923G	tRNA Thr	nd	-	Reported	references
MT-TT	*LIMM	A15924G	tRNA Thr	nd	-	P.M. (polymorphism)	references
MT-TT	*Multiple Sclerosis	G15927A	tRNA Thr	+	-	P.M. (polymorphism)	references
MT-TT	*Multiple Sclerosis	G15928A	tRNA Thr	+	-	P.M. (polymorphism)	references
MT-TT	*MM	T15940delT	tRNA Thr	+	-	Reported	references
MT-TT	*LHON modulator	A15951G	tRNA Thr	+	-	Reported	references
MT-TP	*MM	C15990T	tRNA Pro	-	+	Reported	references
MT-TP	*Mitochondrial cytopathy	G15995A	tRNA Pro	-	+	Reported	references

Notes:

LHON	Leber Hereditary Optic Neuropathy	MM	Mitochondrial Myopathy
AD	Alzeimer's Disease	LIMM	Lethal Infantile Mitochondrial Myopathy
ADPD	Alzeimer's Disease and Parkinsons's Disease	MMC	Maternal Myopathy and Cardiomyopathy
NARP	Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease	FICP	Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
MELAS	Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes	LDYT	Leber's hereditary optic neuropathy and DYsTonia
MERRF	Myoclonic Epilepsy and Ragged Red Muscle Fibers	MHCM	Maternally inherited Hypertrophic CardioMyopathy
CPEO	Chronic Progressive External Ophthalmoplegia	KSS	Kearns Sayre Syndrome
DM	Diabetes Mellitus	DMDF	Diabetes Mellitus + DeaFness
CIPO	Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia	DEAF	Maternally inherited DEAFness or aminoglycoside-induced DEAFness
PEM	Progressive encephalopathy	SNHL	SensoriNeural Hearing Loss

Homoplasmy = pure mutant mtDNAs.
Heteroplasmy = mixture of mutant and normal mtDNAs.
nd = not determined.
"Prov" (provisional) status indicates that only one group has reported the mutation as pathologic.
"Cfrm"(confirmed) status indicates that more than one independent group has published a report on the pathogenicity of a specific mutation (although clinical phenotypes may be different) or independent occurences of the mutation have resulted in a similar phenotype. Additional data will be necessary to confirm the pathological significance of some of these mutations.
"P.M." (point mutation/polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism.

MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases:rRNA/tRNA mutations

MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases:
rRNA/tRNA mutations