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

Last Edited: Feb 19, 2010

Locus Disease Allele RNA Homo-plasmy Hetero-Plasmy Status References
MT-TK DMDF/ MERRF/ HCM/ epilepsy 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 possible PD risk factor A8343G tRNA Lys + - Reported references
MT-TK MERRF A8344G tRNA Lys - + Cfrm references
MT-TK Depressive mood disorder A8344G tRNA Lys - + Reported 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/ LS/ Ataxia + Lipomas 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 SIDS A10044G tRNA Gly - + Unclear references
MT-TR Mitochondrial Myopathy G10406A tRNA Arg - + Reported references
MT-TR Progressive Encephalopathy A10438G tRNA Arg - + Reported references
MT-TR DEAF helper mut. T10454C 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 DEAF helper mut. C12224T tRNA Ser (AGY) + - Reported references
MT-TS2 DEAF G12236A tRNA Ser (AGY) + - Reported references
MT-TS2 CIPO C12246A tRNA Ser (AGY) nd nd Reported references
MT-TS2 DMDF / RP+SNHL C12258A tRNA Ser (AGY) - + Reported references
MT-TS2 CPEO G12276A 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) - + Reported references
MT-TL2 CPEO / Stroke / CM / Renal & Prostate Cancer Risk/ Altered brain pH A12308G tRNA Leu (CUN) + + Haplogroup U marker references
MT-TL2 CPEO T12311C tRNA Leu (CUN) + + Reported references
MT-TL2 FSHD T12313C tRNA Leu (CUN) - + Reported references
MT-TL2 CPEO/KSS G12315A tRNA Leu (CUN) - + Cfrm references
MT-TL2 CPEO G12316A tRNA Leu (CUN) - + Reported references
MT-TL2 MM A12320G tRNA Leu (CUN) - + Reported references
MT-TE Mitochondrial encephalomyopathy C14680A tRNA Glu - + Reported references
MT-TE Mitochondrial myopathy w respiratory failure A14687G tRNA Glu + - Reported references
MT-TE LHON helper mut. A14692G tRNA Glu + - Reported references
MT-TE MELAS/LHON/DEAF helper A14693G tRNA Glu + + Reported references
MT-TE Progressive Encephalopathy A14696G tRNA Glu - + Reported references
MT-TE MM+DMDF / Encephalomyopathy T14709C tRNA Glu + + Cfrm references
MT-TE Encephalomyopathy+Retinopathy G14740A tRNA Glu - + Reported references
MT-TE Mitochondrial leukoencephalopathy G14724A tRNA Glu - + Reported references
MT-TE EXIT G14739A tRNA Glu - + Reported references
MT-TT DEAF helper mut. T15908C tRNA Thr + - 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. references
MT-TT Multiple Sclerosis/DEAF1555 increased penetrance G15927A tRNA Thr + - P.M./possible helper mutation references
MT-TT Multiple Sclerosis G15928A tRNA Thr + - P.M. references
MT-TT Dopaminergic nerve cell deat (PD) G15950A tRNA Thr + - Reported references
MT-TT LHON modulator A15951G tRNA Thr + - Reported references
MT-TP Dopaminergic nerve cell deat (PD) A15965G tRNA Pro + - Reported references
MT-TP Ataxia+RP+deafness C15975T tRNA Pro - + Reported references
MT-TP MM C15990T tRNA Pro - + Reported references
MT-TP Mitochondrial cytopathy G15995A tRNA Pro - + Reported references
MT-TP Mitochondrial cytopathy T16002C tRNA Pro - + Reported 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-TF DEAF A636G tRNA Phe + - Reported references
MT-TF Ataxia, PEO, deafness T642C tRNA Phe - + Reported references
MT-RNR1 DEAF T669C 12S rRNA + - Reported references
MT-RNR1 DEAF A827G 12S rRNA + - Reported references
MT-RNR1 LHON helper/AD-associated A856G 12S rRNA + - Reported references
MT-RNR1 DEAF T961C 12S rRNA + - Unclear references
MT-RNR1 DEAF/AD-associated T961delT+C(n)ins 12S rRNA + + Unclear references
MT-RNR1 DEAF T961insC 12S rRNA + - Unclear references
MT-RNR1 DEAF T990C 12S rRNA + - Reported references
MT-RNR1 DEAF T1005C 12S rRNA + - Unclear references
MT-RNR1 SNHL T1095C 12S rRNA + + Unclear references
MT-RNR1 DEAF A1116G 12S rRNA + - Reported references
MT-RNR1 DEAF T1291C 12S rRNA + - Unclear references
MT-RNR1 DEAF A1491G=A1555G 12S rRNA See 1555G references
MT-RNR1 DEAF C1494T 12S rRNA + - Cfrm references
MT-RNR1 DEAF A1517C 12S rRNA - + Reported references
MT-RNR1 DEAF C1537T 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 Myopathy G3090A 16S rRNA - + Reported references
MT-RNR2 MELAS C3093G 16S rRNA - + Reported references
MT-RNR2 ADPD G3196A 16S rRNA + + Reported references
MT-TL1 Sporadic bilateral optic neuropathy A3236G tRNA Leu (UUR) . . Reported references
MT-TL1 MM G3242A tRNA Leu (UUR) + - Reported references
MT-TL1 MELAS / LS A3243G tRNA Leu (UUR) - + Cfrm references
MT-TL1 DMDF / MIDD / SNHL A3243G tRNA Leu (UUR) - + Cfrm references
MT-TL1 CPEO / MM A3243G tRNA Leu (UUR) - + Cfrm references
MT-TL1 MM / MELAS 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 Gestational Diabetes (GDM) C3254A tRNA Leu (UUR) - + Warrants further study 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 Encephalomyopathy C3287A tRNA Leu (UUR) - + Reported references
MT-TL1 Myopathy A3288G tRNA Leu (UUR) - + Reported references
MT-TL1 MELAS/Myopathy/Deafness, Cog.Impair. 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/spastic paraparesis G4284A tRNA Ile - + Reported references
MT-TI CPEO T4285C tRNA Ile - + Reported references
MT-TI Progressive Encephalopathy/PEO,myopathy 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-NC2 Hypertension A4401G NC2 Gln-Met spacer + - Reported references
MT-TM MM T4409C tRNA Met - + Reported references
MT-TM EXIT & APS2 A4415G tRNA Met - + Reported references
MT-TM LHON modulator/Hypertension risk factor A4435G tRNA Met + - Reported references
MT-TM Myopathy G4450A tRNA Met - + Reported references
MT-TW MM G5521A tRNA Trp - + Reported references
MT-TW Leigh Syndrome T5523G 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/DEAF G5540A tRNA Trp - + Reported references
MT-TW MM T5543C tRNA Trp - + Reported references
MT-TW HCM severe multisystem disorder C5545T tRNA Trp - + Reported references
MT-TW DEMCHO G5549A tRNA Trp - + Reported references
MT-TW Leigh Syndrome A5559G tRNA Trp - + Reported references
MT-TW Myopathy T5567C tRNA Trp - + Reported references
MT-TW DEAF A5568G tRNA Trp + - Reported references
MT-TA Myopathy G5591A tRNA Ala - + Reported references
MT-TA CPEO / DEAF enhancer T5628C tRNA Ala - + Reported references
MT-TA Myopathy G5650A tRNA Ala - + Reported references
MT-TA DEAF enhancer T5655C tRNA Ala + - Reported references
MT-TN CPEO / MM T5692C tRNA Asn - + Reported references
MT-TN Encephalomyopathy T5693C 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 DEAF1555 increased penetrance T5802C tRNA Cys + - Reported references
MT-TC Mitochondrial Encephalopathy T5814C tRNA Cys - + Also reported as pm, L2b marker references
MT-TC Progressive Dystonia A5816G tRNA Cys + - Reported references
MT-TC DEAF helper mut. G5821A 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 precursor? SNHL A7445T tRNA Ser (UCN) precursor + - Reported references
MT-TS1 DEAF A7456G tRNA Ser (UCN) + - Unclear references
MT-TS1 PEM/AMDF/Motor neuron disease-like C7471CC (='7472insC') tRNA Ser (UCN) + + Cfrm references
MT-TS1 MM/DMDF modulator A7472C tRNA Ser (UCN) + - Reported 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 Sporadic bilateral optic neuropathy G7520A tRNA Asp . . Reported references
MT-TD Mitochondrial Myopaty A7526G tRNA Asp - + Reported references
MT-TD MEPR A7543G tRNA Asp - + 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.
  • "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. This is not an assignment of pathogenicity by MITOMAP but is a report of literature. Previously, mutations with this status were termed "Prov" (provisional).
  • "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not an assignment of pathogenicity by MITOMAP but is a report of published literature. Researchers and clinicians are cautioned that additional data and/or analysis may still 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.
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Topic revision: r2 - 10 Mar 2010 - 12:30:18 - MartyBrandon
 
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