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

Last Edited: Aug 15, 2018

The GB frequency data in Mitomap is derived from 45494 GenBank sequences with size greater than 15.4kbp and 69730 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, please see https://www.mitomap.org/MITOMAP/GBFreqInfo.

For information about the predictive MitoTIP scoring for tRNA variants, see MitoTIP Info.

Locus Disease Allele RNA Homo-plasmy Hetero-Plasmy Status References
582 MT-TF Mitochondrial myopathy T582C tRNA Phe - + Reported 72.90% 0 2
583 MT-TF MELAS / MM & EXIT G583A tRNA Phe - + Cfrm Pathogenic 0 3
586 MT-TF Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL G586A tRNA Phe - + Reported 89.70% 0 2
602 MT-TF Axial myopathy with encephalopathy C602T tRNA Phe - + Reported 85.90% 0 2
606 MT-TF Myoglobinuria A606G tRNA Phe + + Unclear 64.90% 15 3
608 MT-TF Tubulo-interstitial nephritis A608G tRNA Phe + - Reported 65.00% 0 2
611 MT-TF MERRF G611A tRNA Phe - + Reported 51.20% 0 3
616 MT-TF Maternally inherited epilepsy T616C tRNA Phe + + Reported 83.30% 1 1
616 MT-TF Maternally inherited epilepsy T616G tRNA Phe + + Reported 95.60% 1 1
617 MT-TF Carotid artery stenosis G617A tRNA Phe - + Reported 81.70% 0 1
618 MT-TF MM T618C tRNA Phe - + Reported 65.80% 0 1
618 MT-TF Ptosis CPEO MM & EXIT T618G tRNA Phe - + Reported 77.50% 0 1
622 MT-TF EXIT & Deafness G622A tRNA Phe - + Reported 41.50% 0 2
625 MT-TF SNHL & Epilepsy G625A tRNA Phe - + Reported 81.30% 0 1
628 MT-TF DEAF C628T tRNA Phe - + Reported 34.80% 3 1
636 MT-TF DEAF A636G tRNA Phe + - Reported 1.30% 18 3
642 MT-TF Ataxia, PEO, deafness T642C tRNA Phe - + Reported 67.60% 0 1
663 MT-RNR1 Coronary Atherosclerosis risk A663G 12S rRNA + - Reported N/A 1317 1
669 MT-RNR1 DEAF T669C 12S rRNA + - Reported N/A 72 4
721 MT-RNR1 Possibly LVNC-associated T721C 12S rRNA + - Reported N/A 92 1
735 MT-RNR1 DEAF A735G 12S rRNA . . Reported N/A 60 1
745 MT-RNR1 DEAF-associated A745G 12S rRNA + - Reported N/A 29 1
750 MT-RNR1 SZ-associated A750A 12S rRNA + - Reported N/A 0 3
792 MT-RNR1 Increased risk of nonsyndromic deafness C792T 12S rRNA + - Reported N/A 3 1
801 MT-RNR1 DEAF-associated A801G 12S rRNA + - Reported N/A 6 1
827 MT-RNR1 DEAF A827G 12S rRNA + - Conflicting reports - B4b'd marker N/A 1082 13
839 MT-RNR1 DEAF-associated A839G 12S rRNA + - Reported N/A 5 1
850 MT-RNR1 Possibly LVNC-associated T850C 12S rRNA + - Reported N/A 118 1
856 MT-RNR1 LHON helper / AD / DEAF-associated A856G 12S rRNA + - Reported N/A 19 3
869 MT-RNR1 found in 1 HCM patient C869T 12S rRNA + - Reported N/A 67 1
921 MT-RNR1 Possibly LVNC-associated T921C 12S rRNA + - Reported N/A 391 2
960 MT-RNR1 Possibly DEAF-associated C960del 12S rRNA + - Reported N/A 0 1
960 MT-RNR1 Possibly DEAF-associated C960CC 12S rRNA + - Reported N/A 256 1
961 MT-RNR1 DEAF, possibly LVNC-associated T961C 12S rRNA + - Unclear N/A 404 6
961 MT-RNR1 DEAF / AD-associated T961delT+ / -C(n)ins 12S rRNA + + Unclear N/A 0 18
961 MT-RNR1 Possibly DEAF-associated T961G 12S rRNA + - Reported N/A 153 2
961 MT-RNR1 DEAF T961TC 12S rRNA + - Unclear N/A 0 11
988 MT-RNR1 Possible DEAF risk factor G988A 12S rRNA . . Reported N/A 35 1
990 MT-RNR1 DEAF T990C 12S rRNA + - Reported N/A 30 1
1005 MT-RNR1 DEAF T1005C 12S rRNA + - Unclear N/A 201 4
1027 MT-RNR1 DEAF-associated A1027G 12S rRNA + - Reported N/A 13 1
1095 MT-RNR1 SNHL T1095C 12S rRNA + + Unclear N/A 56 13
1116 MT-RNR1 DEAF A1116G 12S rRNA + - Reported N/A 10 2
1180 MT-RNR1 Possibly DEAF-associated T1180G 12S rRNA + - Reported N/A 0 1
1192 MT-RNR1 DEAF-associated C1192A 12S rRNA + - Reported N/A 7 2
1192 MT-RNR1 DEAF-associated C1192T 12S rRNA + - Reported N/A 10 1
1226 MT-RNR1 Possibly DEAF-associated C1226G 12S rRNA + - Reported N/A 0 1
1291 MT-RNR1 DEAF T1291C 12S rRNA + - Unclear N/A 51 3
1310 MT-RNR1 DEAF-associated C1310T 12S rRNA + - Reported N/A 36 1
1331 MT-RNR1 DEAF-associated A1331G 12S rRNA + - Reported N/A 7 1
1374 MT-RNR1 DEAF-associated A1374G 12S rRNA + - Reported N/A 1 1
1391 MT-RNR1 found in 1 HCM patient T1391C 12S rRNA + - Reported N/A 126 1
1438 MT-RNR1 SZ-associated A1438A 12S rRNA + - Reported N/A 0 3
1452 MT-RNR1 DEAF-associated T1452C 12S rRNA + - Reported N/A 48 1
1453 MT-RNR1 Possible DEAF risk factor A1453G 12S rRNA . . Reported N/A 59 1
1494 MT-RNR1 DEAF C1494T 12S rRNA + - Cfrm N/A 4 22
1517 MT-RNR1 DEAF A1517C 12S rRNA - + Reported N/A 0 1
1537 MT-RNR1 DEAF C1537T 12S rRNA + - Reported N/A 4 1
1555 MT-RNR1 DEAF A1555G 12S rRNA + - Cfrm N/A 67 121
1556 MT-RNR1 found in 1 HCM patient C1556T 12S rRNA + - Reported N/A 4 1
1606 MT-TV AMDF G1606A tRNA Val - + Cfrm Pathogenic 0 3
1607 MT-TV Suspected mito disease T1607C tRNA Val + + Reported 18.10% 9 1
1616 MT-TV MELAS A1616G tRNA Val . . Reported 36.70% 0 1
1624 MT-TV Leigh Syndrome C1624T tRNA Val + - Reported 68.70% 0 4
1630 MT-TV MNGIE-like disease / MELAS A1630G tRNA Val - + Cfrm Pathogenic 0 2
1642 MT-TV MELAS G1642A tRNA Val - + Reported 74.30% 0 2
1643 MT-TV Late infantile onset fatal mito disease A1643G tRNA Val + + Reported 42.00% 1 1
1644 MT-TV LS / HCM / MELAS G1644A tRNA Val - + Cfrm Pathogenic 0 4
1644 MT-TV Adult Leigh Syndrome G1644T tRNA Val - + Reported 48.40% 0 1
1659 MT-TV Movement Disorder T1659C tRNA Val - + Reported 69.60% 0 1
2352 MT-RNR2 Possibly LVNC-associated T2352C 16S rRNA + - Reported N/A 1234 3
2361 MT-RNR2 Possibly LVNC-associated G2361A 16S rRNA + - Reported N/A 122 1
2639 MT-RNR2 Rare mutation in a single POAG patient C2639A 16S rRNA + - Reported N/A 1 1
2755 MT-RNR2 Possibly LVNC-associated A2755G 16S rRNA + - Reported N/A 194 2
2835 MT-RNR2 Rett Syndrome C2835T 16S rRNA - + Reported N/A 49 2
3010 MT-RNR2 Cyclic Vomiting Syndrome with Migraine G3010A 16S rRNA + - Reported; also common pm N/A 6644 6
3090 MT-RNR2 Myopathy G3090A 16S rRNA - + Reported N/A 1 1
3093 MT-RNR2 MELAS C3093G 16S rRNA - + Reported N/A 0 2
3111 MT-RNR2 Migraine A3111T 16S rRNA + - Reported N/A 6 1
3196 MT-RNR2 ADPD G3196A 16S rRNA + + Reported N/A 13 3
3236 MT-TL1 Sporadic bilateral optic neuropathy A3236G tRNA Leu (UUR) . . Reported 37.80% 2 2
3242 MT-TL1 MM / HCM+renal tubular dysfunction G3242A tRNA Leu (UUR) + + Reported 18.50% 0 5
3243 MT-TL1 MELAS / LS / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction A3243G tRNA Leu (UUR) - + Cfrm Pathogenic 9 351
3243 MT-TL1 MM / MELAS / SNHL / CPEO A3243T tRNA Leu (UUR) - + Cfrm Pathogenic 0 6
3244 MT-TL1 MELAS G3244A tRNA Leu (UUR) - + Reported 41.60% 6 4
3249 MT-TL1 KSS G3249A tRNA Leu(UUR) - + Reported 39.30% 0 3
3250 MT-TL1 MM / CPEO T3250C tRNA Leu (UUR) - + Reported 33.40% 0 11
3251 MT-TL1 MM A3251G tRNA Leu (UUR) - + Reported 43.50% 0 3
3252 MT-TL1 MELAS A3252G tRNA Leu (UUR) - + Reported 39.40% 0 4
3252 MT-TL1 EXIT A3252T tRNA Leu (UUR) - + Reported 39.40% 0 1
3253 MT-TL1 Maternally inherited hypertension T3253C tRNA Leu (UUR) + - Reported 0.40% 6 2
3254 MT-TL1 Gestational Diabetes (GDM) C3254A tRNA Leu (UUR) - + Reported 60.80% 24 1
3254 MT-TL1 MM C3254G tRNA Leu (UUR) - + Reported 60.80% 0 3
3254 MT-TL1 CPEO / poss. hypertension factor C3254T tRNA Leu (UUR) + - Reported 25.30% 15 5
3255 MT-TL1 MERRF / KSS overlap G3255A tRNA Leu (UUR) - + Reported 75.80% 0 3
3256 MT-TL1 MELAS C3256T tRNA Leu (UUR) - + Cfrm Pathogenic 0 14
3258 MT-TL1 MELAS / Myopathy T3258C tRNA Leu (UUR) - + Cfrm Pathogenic 1 5
3260 MT-TL1 MMC / MELAS A3260G tRNA Leu (UUR) - + Cfrm Pathogenic 0 10
3264 MT-TL1 DM T3264C tRNA Leu (UUR) - + Reported 47.30% 0 3
3271 MT-TL1 PEM T3271del tRNA Leu (UUR) - + Cfrm Pathogenic 0 2
3271 MT-TL1 MELAS / DM T3271C tRNA Leu (UUR) - + Cfrm Pathogenic 0 25
3273 MT-TL1 Ocular myopathy T3273C tRNA Leu (UUR) - + Reported 71.20% 0 3
3274 MT-TL1 Neuropsychiatric syndrome + cataract A3274G tRNA Leu (UUR) - + Reported 77.10% 0 2
3275 MT-TL1 LHON C3275A tRNA Leu (UUR) + - Reported 2.20% 1 3
3277 MT-TL1 Poss. hypertension factor G3277A tRNA Leu (UUR) + - Reported 2.90% 29 1
3278 MT-TL1 Poss. hypertension factor T3278C tRNA Leu (UUR) + - Reported 13.10% 13 1
3280 MT-TL1 Myopathy A3280G tRNA Leu (UUR) - + Cfrm Pathogenic 0 6
3287 MT-TL1 Encephalomyopathy C3287A tRNA Leu (UUR) - + Reported 38.30% 0 2
3288 MT-TL1 Myopathy A3288G tRNA Leu (UUR) - + Reported 36.10% 0 2
3290 MT-TL1 Poss. hypertension factor T3290C tRNA Leu (UUR) + - Reported 1.40% 111 2
3291 MT-TL1 MELAS / Myopathy / Deafness+Cognitive Impairment T3291C tRNA Leu (UUR) - + Cfrm Pathogenic 0 13
3302 MT-TL1 MM A3302G tRNA Leu (UUR) - + Cfrm Pathogenic 0 10
3303 MT-TL1 MMC C3303T tRNA Leu (UUR) + + Cfrm Pathogenic 0 12
4263 MT-TI Maternally inherited essential hypertension A4263G tRNA Ile + - Reported 67.80% 2 4
4267 MT-TI MM / CPEO A4267G tRNA Ile - + Reported 71.10% 0 4
4269 MT-TI FICP A4269G tRNA Ile - + Reported 82.80% 0 9
4274 MT-TI CPEO / Motor Neuron Disease T4274C tRNA Ile - + Reported 85.50% 0 5
4277 MT-TI Poss. hypertension factor T4277C tRNA Ile + - Reported 8.90% 15 1
4279 MT-TI Myoclonic epilepsy A4279G tRNA Ile - + Reported 54.90% 0 1
4281 MT-TI Recurrent Myoglobinuria A4281G tRNA Ile - + Reported 87.90% 1 1
4282 MT-TI CPEO Plus G4282A tRNA Ile - + Reported 82.30% 0 1
4284 MT-TI Varied familial presentation / spastic paraparesis G4284A tRNA Ile - + Reported 35.30% 2 5
4285 MT-TI CPEO T4285C tRNA Ile - + Reported 84.80% 0 5
4289 MT-TI Retinopathy+diabetes+dysphagia+cerebral atrophy T4289C tRNA Ile - + Reported 84.30% 0 1
4290 MT-TI Progressive Encephalopathy / PEO,myopathy T4290C tRNA Ile + + Reported 47.70% 0 4
4291 MT-TI Hypomagnesemic Metabolic Syndrome T4291C tRNA Ile + - Reported 31.80% 0 1
4295 MT-TI MHCM / Maternally inherited hypertension / Maternally inherited deafness A4295G tRNA Ile + + Reported 44.00% 91 10
4296 MT-TI Leigh Syndrome G4296A tRNA Ile - + Reported 46.60% 0 3
4298 MT-TI CPEO / MS G4298A tRNA Ile - + Cfrm Pathogenic 0 9
4300 MT-TI MICM A4300G tRNA Ile + + Cfrm Pathogenic 0 8
4302 MT-TI CPEO A4302G tRNA Ile - + Reported 42.00% 0 1
4308 MT-TI CPEO G4308A tRNA Ile - + Cfrm Pathogenic 0 2
4309 MT-TI CPEO G4309A tRNA Ile - + Reported 64.10% 1 3
4314 MT-TI Poss. hypertension factor T4314C tRNA Ile + - Reported 1.70% 38 1
4316 MT-TI HCM with hearing loss / poss. hypertension factor A4316G tRNA Ile + + Reported 37.10% 30 2
4317 MT-TI FICP / poss. Hypertension / DEAF factor A4317G tRNA Ile + - Reported 2.10% 21 9
4320 MT-TI Mitochondrial Encephalocardiomyopathy C4320T tRNA Ile - + Reported 25.60% 2 4
4322 MT-TI Idiopathic Dilated Cardiomopathy C4322CC tRNA Ile - + Reported - 3 1
4332 MT-TQ Encephalopathy / MELAS G4332A tRNA Gln - + Cfrm Pathogenic 0 4
4336 MT-TQ ADPD / Hearing Loss & Migraine T4336C tRNA Gln + + Unclear 37.30% 384 24
4343 MT-TQ Poss. hypertension factor A4343G tRNA Gln + - Reported 5.10% 53 1
4345 MT-TQ Poss. hypertension factor C4345T tRNA Gln + - Reported 13.20% 2 1
4353 MT-TQ Poss. hypertension factor T4353C tRNA Gln + - Reported 31.60% 20 1
4363 MT-TQ Possibly associated w DEAF + RP + dev delay / hypertension T4363C tRNA Gln + - Reported 9.50% 43 3
4369 MT-TQ Myopathy A4369AA tRNA Gln - + Reported - 0 2
4372 MT-TQ Suspected mito disease C4372T tRNA Gln - + Reported 71.30% 0 1
4373 MT-TQ Possibly LVNC-associated T4373C tRNA Gln + - Reported 29.10% 8 1
4381 MT-TQ LHON A4381G tRNA Gln + - Reported 15.30% 4 1
4386 MT-TQ Heart disease / myopathy / hypertension T4386C tRNA Gln + - Conflicting reports 6.90% 152 3
4387 MT-TQ Poss. hypertension factor C4387A tRNA Gln + - Reported 12.80% 0 1
4388 MT-TQ Poss. hypertension factor A4388G tRNA Gln + - Reported 0.10% 60 1
4392 MT-TQ Poss. hypertension factor C4392T tRNA Gln + - Reported 15.70% 17 1
4395 MT-TQ Poss. hypertension factor A4395G tRNA Gln + - Reported 0.20% 23 1
4401 MT-NC2 Hypertension+Ventricular Hypertrophy A4401G NC2 Gln-Met spacer + - Reported N/A 3 2
4403 MT-TM Mitochondrial myopathy G4403A tRNA Met - + Reported 84.80% 0 1
4409 MT-TM Mitochondrial myopathy T4409C tRNA Met - + Reported 46.50% 0 5
4410 MT-TM Poss. hypertension factor C4410A tRNA Met + - Reported 32.90% 0 1
4415 MT-TM EXIT & APS2 A4415G tRNA Met - + Reported 44.10% 0 1
4435 MT-TM LHON modulator / hypertension A4435G tRNA Met + - Reported 13.80% 47 7
4437 MT-TM Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss C4437T tRNA Met + - Reported 67.20% 1 1
4450 MT-TM Myopathy G4450A tRNA Met - + Reported 83.70% 0 2
4454 MT-TM Possible contributor to mito dysfunction / hypertension T4454C tRNA Met + - Reported 0.80% 200 3
4456 MT-TM Poss. hypertension factor C4456T tRNA Met - + Reported 32.00% 5 1
5514 MT-TW Neonatal onset mito disease A5514G tRNA Trp + - Reported 19.70% 35 1
5521 MT-TW Mitochondrial myopathy G5521A tRNA Trp - + Cfrm Pathogenic 0 4
5522 MT-TW Mitochondrial myopathy G5522A tRNA Trp - + Reported 83.00% 0 1
5523 MT-TW Leigh Syndrome T5523G tRNA Trp - + Reported 80.90% 0 1
5532 MT-TW Gastrointestinal Syndrome G5532A tRNA Trp - + Reported 19.40% 1 2
5537 MT-TW Leigh Syndrome A5537insT tRNA Trp - + Cfrm - 0 5
5538 MT-TW Encephalomyopathy G5538A tRNA Trp - + Reported 76.70% 0 1
5540 MT-TW Encephalomyopathy / DEAF G5540A tRNA Trp - + Reported 73.70% 0 3
5541 MT-TW MELAS+stroke-like episodes and cortical blindness+MRI shows occipital lobe infarct C5541T tRNA Trp - + Reported 84.30% 0 1
5543 MT-TW Mitochondrial myopathy T5543C tRNA Trp - + Reported 47.30% 0 5
5545 MT-TW HCM severe multisystem disorder C5545T tRNA Trp - + Reported 53.00% 0 1
5549 MT-TW DEMCHO G5549A tRNA Trp - + Reported 83.30% 0 1
5556 MT-TW Combined OXPHOS defects G5556A tRNA Trp - + Reported 44.50% 0 1
5556 MT-TW Mito encephalomyopathy G5556C tRNA Trp - + Reported 44.50% 0 1
5559 MT-TW Leigh Syndrome A5559G tRNA Trp - + Reported 70.10% 0 1
5567 MT-TW Myopathy T5567C tRNA Trp - + Reported 32.70% 41 2
5568 MT-TW DEAF A5568G tRNA Trp + - Reported 9.70% 7 1
5587 MT-TA LHON / possible DEAF modifier T5587C tRNA Ala + - Reported 12.10% 29 2
5591 MT-TA Myopathy G5591A tRNA Ala - + Reported 68.40% 0 2
5592 MT-TA Coronary Heart Disease A5592G tRNA Ala + - Reported 0.40% 26 2
5613 MT-TA CPEO T5613C tRNA Ala - + Reported 59.30% 0 1
5628 MT-TA CPEO / DEAF enhancer T5628C tRNA Ala - + Reported 78.90% 88 3
5636 MT-TA PEO T5636C tRNA Ala - + Reported 73.50% 0 1
5650 MT-TA Myopathy G5650A tRNA Ala - + Cfrm Pathogenic 1 4
5655 MT-TA DEAF enhancer T5655C tRNA Ala + - Reported 26.70% 310 1
5658 MT-TN Mitochondrial myopathy T5658C tRNA Asn - + Reported 94.30% 0 1
5690 MT-TN CPEO+ptosis+proximal myopathy A5690G tRNA Asn - + Cfrm Pathogenic 0 2
5692 MT-TN CPEO / MM T5692C tRNA Asn - + Reported 46.60% 0 4
5693 MT-TN Encephalomyopathy T5693C tRNA Asn + - Reported 31.20% 0 1
5698 MT-TN CPEO / MM G5698A tRNA Asn - + Reported 47.70% 1 4
5703 MT-TN CPEO / MM G5703A tRNA Asn - + Cfrm Pathogenic 0 5
5709 MT-TN Ophthalmoparesis+respiratory impairment T5709C tRNA Asn - + Reported 49.80% 0 1
5728 MT-TN Multiorgan failure T5728C tRNA Asn - + Reported 70.80% 1 1
5780 MT-TC SNHL G5780A tRNA Cys - + Reported 35.50% 12 1
5783 MT-TC Myopathy deafness G5783A tRNA Cys - + Reported 66.90% 39 1
5802 MT-TC DEAF1555 increased penetrance T5802C tRNA Cys + - Reported 58.90% 0 2
5814 MT-TC Mitochondrial Encephalopathy T5814C tRNA Cys - + L2b marker 38.80% 128 9
5816 MT-TC Progressive Dystonia A5816G tRNA Cys + - Reported 59.90% 0 3
5821 MT-TC DEAF helper mut. G5821A tRNA Cys + - Reported 20.90% 291 4
5843 MT-TY FSGS / Mitochondrial Cytopathy A5843G tRNA Tyr + - Reported 8.40% 203 1
5874 MT-TY EXIT T5874G tRNA Tyr - + Reported 38.90% 0 1
7445 MT-TS1 precursor DEAF A7445C tRNA Ser (UCN) precursor + - Reported - 13 4
7445 MT-TS1 precursor SNHL A7445G tRNA Ser (UCN) precursor + + Cfrm - 1 29
7445 MT-TS1 precursor SNHL A7445T tRNA Ser (UCN) precursor + - Reported - 2 1
7451 MT-TS1 CPEO+ptosis A7451T tRNA Ser (UCN) precursor - + Reported 80.70% 0 1
7453 MT-TS1 Fatal neonatal lactic acidosis G7453A tRNA Ser (UCN) + - Reported 68.00% 0 2
7456 MT-TS1 DEAF A7456G tRNA Ser (UCN) + - Unclear 16.00% 1 1
7458 MT-TS1 PEO G7458A tRNA Ser (UCN) - + Reported 86.00% 0 1
7462 MT-TS1 DEAF C7462T tRNA Ser (UCN) + - Reported 11.20% 6 1
7471 MT-TS1 PEM / AMDF / Motor neuron disease-like C7471insC tRNA Ser (UCN) + + Cfrm - 7 27
7472 MT-TS1 MM / DMDF modulator A7472C tRNA Ser (UCN) + - Reported 3.20% 3 3
7472 MT-TS1 PEM / AMDF / Motor neuron disease-like A7472insC tRNA Ser (UCN) + + See 7471insC - 0 1
7480 MT-TS1 MM T7480G tRNA Ser (UCN) - + Reported 46.60% 0 3
7492 MT-TS1 Hypertension C7492T tRNA Ser (UCN) + - Reported 0.10% 8 1
7497 MT-TS1 MM / EXIT G7497A tRNA Ser (UCN) + + Cfrm Pathogenic 1 6
7501 MT-TS1 Cardiovascular disease; renal disease patient T7501A tRNA Ser (UCN) . . Reported 1.90% 1 3
7505 MT-TS1 Maternally inherited hearing loss T7505C tRNA Ser (UCN) + - Reported 58.60% 0 1
7506 MT-TS1 PEO with hearing loss G7506A tRNA Ser (UCN) - + Reported 81.40% 0 1
7510 MT-TS1 SNHL T7510C tRNA Ser (UCN) - + Cfrm Pathogenic 1 13
7511 MT-TS1 SNHL T7511C tRNA Ser (UCN) + + Cfrm Pathogenic 1 16
7512 MT-TS1 PEM / MERME T7512C tRNA Ser (UCN) + + Reported 64.20% 0 10
7520 MT-TD Sporadic bilateral optic neuropathy G7520A tRNA Asp . . Reported 54.90% 0 1
7526 MT-TD Mitochondrial myopathy A7526G tRNA Asp - + Reported 50.40% 0 1
7539 MT-TD Multisystemic mitochondrial disorder C7539T tRNA Asp - + Reported 93.70% 0 1
7543 MT-TD MEPR A7543G tRNA Asp - + Reported 67.30% 37 1
7554 MT-TD Myopathy+ataxia+nystagmus+migraines+lactic acidosis G7554A tRNA Asp - + Reported 71.20% 1 1
8296 MT-TK DMDF / MERRF / HCM / epilepsy A8296G tRNA Lys + + Reported 72.30% 34 16
8299 MT-TK PEO + respiratory impairment G8299A tRNA Lys - + Reported 63.80% 0 1
8302 MT-TK Encephalopathy A8302T tRNA Lys + - Unclear 15.20% 0 1
8304 MT-TK Epilepsy+ataxia+visual disturbance+deafness G8304A tRNA Lys - + Reported 89.70% 0 1
8306 MT-TK Severe adult-onset multisymptom myopathy T8306C tRNA Lys - + Reported 88.80% 0 2
8311 MT-TK Poss. hypertension factor T8311C tRNA Lys + - Reported 6.80% 55 1
8313 MT-TK MNGIE / Progressive mito cytopathy G8313A tRNA Lys - + Reported 73.60% 1 5
8316 MT-TK MELAS T8316C tRNA Lys - + Reported 80.20% 0 3
8319 MT-TK Kearns-Sayre syndrome A8319G tRNA Lys - + Reported 69.60% 0 1
8326 MT-TK Mitochondrial Cytopathy A8326G tRNA Lys - + Reported 46.20% 0 3
8328 MT-TK Mito Encephalopathy / EXIT with myopathy and ptosis G8328A tRNA Lys - + Reported 83.30% 0 5
8332 MT-TK Dystonia and stroke-like episodes A8332G tRNA Lys + - Reported 62.80% 0 1
8337 MT-TK Poss. hypertension factor T8337C tRNA Lys + - Reported 6.80% 169 1
8340 MT-TK Myopathy / Exercise Intolerance / Eye disease+SNHL G8340A tRNA Lys - + Reported 64.60% 0 5
8342 MT-TK PEO and Myoclonus G8342A tRNA Lys - + Reported 77.20% 0 4
8343 MT-TK Possible PD risk factor A8343G tRNA Lys + - Reported 4.70% 39 1
8344 MT-TK MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM A8344G tRNA Lys - + Cfrm Pathogenic 4 112
8347 MT-TK Poss. hypertension factor A8347G tRNA Lys + - Reported 2.60% 18 2
8348 MT-TK Cardiomyopathy / SNHL / poss. hypertension factor A8348G tRNA Lys + + Reported 33.80% 113 8
8355 MT-TK Myopathy T8355C tRNA Lys - + Reported 67.20% 0 2
8356 MT-TK MERRF T8356C tRNA Lys - + Cfrm Pathogenic 0 10
8361 MT-TK MERRF G8361A tRNA Lys - + Reported 64.80% 0 3
8362 MT-TK Myopathy T8362G tRNA Lys - + Reported 93.00% 0 4
8363 MT-TK MICM+DEAF / MERRF / Autism / LS / Ataxia+Lipomas G8363A tRNA Lys - + Cfrm Pathogenic 0 18
9997 MT-TG MHCM T9997C tRNA Gly - + Reported 80.30% 1 4
10006 MT-TG CIPO / Encephalopathy A10006G tRNA Gly + - Unclear 19.30% 7 4
10010 MT-TG PEM T10010C tRNA Gly - + Cfrm Pathogenic 0 9
10014 MT-TG Myopathy G10014A tRNA Gly + - Unclear 60.90% 1 1
10044 MT-TG SIDS A10044G tRNA Gly - + Unclear 34.70% 125 7
10406 MT-TR Mitochondrial myopathy G10406A tRNA Arg - + Reported 72.30% 0 2
10437 MT-TR Mitochondrial myopathy G10437A tRNA Arg - + Reported 51.70% 0 1
10438 MT-TR Progressive Encephalopathy A10438G tRNA Arg - + Reported 46.20% 0 1
10450 MT-TR Combined OXPHOS defects & severe multisystem disorder A10450G tRNA Arg - + Reported 69.60% 0 1
10454 MT-TR DEAF helper mut. T10454C tRNA Arg + - Reported 4.80% 165 3
12146 MT-TH MELAS A12146G tRNA His + + Reported 61.60% 0 1
12147 MT-TH MERRF-MELAS / Encephalopathy G12147A tRNA His - + Cfrm Pathogenic 0 5
12148 MT-TH Developmental delay, optic atrophy, cataract, hearing loss, myopathy T12148C tRNA His - + Reported 74.70% 1 1
12183 MT-TH RP + DEAF G12183A tRNA His - + Reported 70.30% 1 2
12187 MT-TH Asthenozoospermia C12187A tRNA His + - Reported 15.40% 0 1
12192 MT-TH MICM G12192A tRNA His + - Reported 4.50% 100 2
12201 MT-TH Maternally inherited non-syndromic deafness T12201C tRNA His - + Reported 66.70% 0 1
12206 MT-TH MELAS-like encephalopathy+bilateral optic atrophy C12206T tRNA His - + Reported 44.20% 0 1
12207 MT-TS2 Myopathy / Encephalopathy G12207A tRNA Ser (AGY) - + Reported 76.40% 0 2
12224 MT-TS2 DEAF helper mut. C12224T tRNA Ser (AGY) + - Reported 30.40% 4 1
12236 MT-TS2 DEAF G12236A tRNA Ser (AGY) + - Reported 2.20% 353 4
12246 MT-TS2 CIPO C12246A tRNA Ser (AGY) nd nd Reported 3.20% 3 2
12258 MT-TS2 DMDF / RP+SNHL C12258A tRNA Ser (AGY) - + Cfrm Pathogenic 1 6
12261 MT-TS2 Myopathy+epilepsy+retinal degeneration+DEAF T12261C tRNA Ser (AGY) - + Reported 65.30% 0 1
12262 MT-TS2 Progressive MM+Deafness+Seizures C12262A tRNA Ser (AGY) - + Reported 84.50% 0 1
12264 MT-TS2 Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism C12264T tRNA Ser (AGY) + + Reported 79.30% 0 2
12276 MT-TL2 CPEO G12276A tRNA Leu (CUN) - + Cfrm Pathogenic 1 3
12283 MT-TL2 CPEO G12283A tRNA Leu (CUN) - + Reported 43.20% 1 2
12294 MT-TL2 CPEO G12294A tRNA Leu (CUN) - + Reported 71.40% 0 1
12297 MT-TL2 Dilated Cardiomyopathy / LS / Failure to Thrive & LA T12297C tRNA Leu (CUN) + + Reported 47.30% 35 5
12299 MT-TL2 MELAS A12299C tRNA Leu (CUN) - + Reported 53.00% 0 1
12300 MT-TL2 3243 suppressor mutant G12300A tRNA Leu (CUN) - + Reported 51.70% 0 4
12308 MT-TL2 CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD A12308G tRNA Leu (CUN) + + Hg K & U marker 42.00% 5614 19
12311 MT-TL2 CPEO T12311C tRNA Leu (CUN) + + Reported 34.40% 55 3
12313 MT-TL2 FSHD T12313C tRNA Leu (CUN) - + Reported 73.20% 0 1
12315 MT-TL2 CPEO / KSS G12315A tRNA Leu (CUN) - + Cfrm Pathogenic 0 7
12316 MT-TL2 CPEO G12316A tRNA Leu (CUN) - + Cfrm Pathogenic 0 2
12317 MT-TL2 CPEO+ptosis+myopathy+exercise intolerance+diabetes T12317C tRNA Leu (CUN) - + Reported 41.30% 1 1
12320 MT-TL2 MM A12320G tRNA Leu (CUN) - + Reported 37.30% 0 6
14674 MT-TE Reversible COX deficiency myopathy T14674C tRNA Glu + - Cfrm Pathogenic 7 5
14674 MT-TE Reversible COX deficiency myopathy T14674G tRNA Glu + - Reported 29.40% 0 1
14680 MT-TE Mitochondrial encephalomyopathy C14680A tRNA Glu - + Reported 35.50% 0 1
14685 MT-TE Cataracts w spastic paraparesis & ataxia G14685A tRNA Glu - + Reported 77.40% 0 1
14687 MT-TE Mito myopathy w respiratory failure A14687G tRNA Glu + - Reported 7.00% 267 2
14692 MT-TE LHON helper mut. A14692G tRNA Glu + - Reported 2.40% 18 1
14693 MT-TE MELAS / LHON / DEAF / hypertension helper A14693G tRNA Glu + + Reported 39.50% 251 11
14696 MT-TE Progressive Encephalopathy A14696G tRNA Glu - + Reported 22.00% 41 1
14709 MT-TE MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia T14709C tRNA Glu + + Cfrm Pathogenic 1 20
14710 MT-TE Encephalomyopathy + Retinopathy G14710A tRNA Glu - + Cfrm Pathogenic 0 5
14721 MT-TE Isolated complex I deficiency G14721A tRNA Glu - + Reported 82.90% 0 1
14723 MT-TE CPEO + Myopathy T14723C tRNA Glu - + Reported 73.50% 0 2
14724 MT-TE Mito Leukoencephalopathy G14724A tRNA Glu - + Reported 88.80% 0 3
14728 MT-TE Late-onset mitochondrial encephalomyopathy T14728C tRNA Glu - + Reported 48.50% 0 1
14739 MT-TE EXIT G14739A tRNA Glu - + Reported 62.10% 0 2
15908 MT-TT DEAF helper mut. T15908C tRNA Thr + - Reported 28.00% 104 2
15915 MT-TT Encephalomyopathy G15915A tRNA Thr - + Reported 73.70% 1 2
15923 MT-TT LIMM / MERRF / mito disease A15923G tRNA Thr - + Reported 46.60% 0 4
15924 MT-TT LIMM A15924G tRNA Thr . . P.M. 22.70% 1611 6
15927 MT-TT Multiple Sclerosis / DEAF1555 increased penetrance / CHD G15927A tRNA Thr + - P.M. / possible helper mutation 16.20% 400 10
15928 MT-TT Multiple Sclerosis / idiopathic repeat miscarriage / AD protection G15928A tRNA Thr + - P.M. / possible helper mutation 20.20% 2189 7
15933 MT-TT Suspected mito disease G15933A tRNA Thr + - Reported 66.80% 0 1
15942 MT-TT Possibly LVNC-associated T15942C tRNA Thr + - Reported 28.60% 404 1
15944 MT-TT MM T15944del tRNA Thr + - P.M. 19.90% 709 2
15950 MT-TT Dopaminergic nerve cell death (PD) G15950A tRNA Thr + - Reported 54.50% 1 1
15951 MT-TT LHON / LHON modulator A15951G tRNA Thr + - Conflicting reports 23.70% 341 5
15965 MT-TP Dopaminergic nerve cell death (PD) A15965G tRNA Pro + - Reported 2.10% 8 1
15967 MT-TP MERRF-like disease G15967A tRNA Pro - + Reported 78.90% 0 2
15975 MT-TP Ataxia+RP+deafness C15975T tRNA Pro - + Reported 78.30% 0 1
15990 MT-TP MM C15990T tRNA Pro - + Reported 51.70% 0 4
15995 MT-TP Mitochondrial cytopathy G15995A tRNA Pro - + Reported 80.00% 0 2
15998 MT-TP Mitochondrial myopathy A15998T tRNA Pro - + Reported 57.50% 0 1
16002 MT-TP Mitochondrial cytopathy T16002C tRNA Pro - + Reported 75.80% 0 1
16015 MT-TP Mitochondrial myopathy T16015C tRNA Pro - + Reported 50.40% 0 1
16018 MT-TP Dilated cardiomyopathy (15 bp dup), alternate notation T16018TTCTCTGTTCTTTCAT tRNA Pro - + Reported - 0 1
16021 MT-TP Mitochondrial myopathy 16021_16022delCT tRNA Pro - + Reported - 0 1
16023 MT-TP Migraine +pigmentary retinopathy +deafness +leukariosis G16023A tRNA Pro - + Reported 83.70% 0 1
16032 MT-TP Dilated cardiomyopathy (15 bp dup) T16032TTCTCTGTTCTTTCAT tRNA Pro - + Reported - 1 1
16033 MT-TP Dilated cardiomyopathy (15 bp dup), alternate notation G16033TCTCTGTTCTTTCATG tRNA Pro - + Reported - 0 1


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.
Topic revision: r54 - 17 Aug 2018, ShipingZhang
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