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

Last Edited: May 02, 2019

The GB frequency data in Mitomap is derived from 47412 GenBank sequences with size greater than 15.4kbp and 71091 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 / kidney disease	T616C	tRNA Phe	+	+	Cfrm	Pathogenic	1	2
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
652	MT-RNR1	Atherosclerosis risk	G652del	12S rRNA	-	+	Reported	N/A	0	2
652	MT-RNR1	Atherosclerosis study	G652GG	12S rRNA	.	.	Reported	N/A	0	1
663	MT-RNR1	Coronary atherosclerosis risk	A663G	12S rRNA	+	-	Reported	N/A	1350	1
669	MT-RNR1	DEAF	T669C	12S rRNA	+	-	Reported	N/A	79	4
721	MT-RNR1	Possibly LVNC-associated	T721C	12S rRNA	+	-	Reported	N/A	94	1
735	MT-RNR1	DEAF	A735G	12S rRNA	.	.	Reported	N/A	69	1
745	MT-RNR1	DEAF-associated	A745G	12S rRNA	+	-	Reported	N/A	31	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	1186	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	68	1
921	MT-RNR1	Possibly LVNC-associated	T921C	12S rRNA	+	-	Reported	N/A	396	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	269	1
961	MT-RNR1	DEAF, possibly LVNC-associated	T961C	12S rRNA	+	-	Unclear	N/A	414	7
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	168	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	39	1
990	MT-RNR1	DEAF	T990C	12S rRNA	+	-	Reported	N/A	31	1
1005	MT-RNR1	DEAF	T1005C	12S rRNA	+	-	Unclear	N/A	219	4
1027	MT-RNR1	DEAF-associated	A1027G	12S rRNA	+	-	Reported	N/A	13	1
1095	MT-RNR1	SNHL	T1095C	12S rRNA	+	+	Unclear	N/A	58	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	8	2
1192	MT-RNR1	DEAF-associated	C1192T	12S rRNA	+	-	Reported	N/A	11	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	8	1
1349	MT-RNR1	DEAF	T1349G	12S rRNA	-	+	Reported	N/A	0	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	128	1
1420	MT-RNR1	DEAF	T1420G	12S rRNA	+	+	Reported	N/A	0	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	107	1
1492	MT-RNR1	DEAF	A1492C	12S rRNA	-	+	Reported	N/A	0	1
1494	MT-RNR1	DEAF	C1494T	12S rRNA	+	-	Cfrm	N/A	4	24
1517	MT-RNR1	DEAF	A1517C	12S rRNA	-	+	Reported	N/A	0	1
1537	MT-RNR1	DEAF; intellectual disability	C1537T	12S rRNA	+	-	Reported	N/A	4	1
1544	MT-RNR1	DEAF	A1544T	12S rRNA	+	-	Reported	N/A	0	1
1546	MT-RNR1	DEAF	A1546T	12S rRNA	+	-	Reported	N/A	0	1
1554	MT-RNR1	DEAF	G1554A	12S rRNA	+	-	Reported	N/A	0	1
1555	MT-RNR1	DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic	A1555G	12S rRNA	+	-	Cfrm	N/A	70	131
1556	MT-RNR1	found in 1 HCM patient	C1556T	12S rRNA	+	-	Reported	N/A	4	1
1575	MT-RNR1	DEAF	T1575G	12S rRNA	+	-	Reported	N/A	0	1
1577	MT-RNR1	DEAF	T1577G	12S rRNA	-	+	Reported	N/A	0	1
1606	MT-TV	AMDF	G1606A	tRNA Val	-	+	Cfrm	Pathogenic	0	4
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	1255	3
2361	MT-RNR2	Possibly LVNC-associated	G2361A	16S rRNA	+	-	Reported	N/A	130	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	225	2
2835	MT-RNR2	Rett Syndrome	C2835T	16S rRNA	-	+	Reported	N/A	50	2
3010	MT-RNR2	Cyclic Vomiting Syndrome with Migraine	G3010A	16S rRNA	+	-	Reported; also common pm	N/A	6872	6
3090	MT-RNR2	Myopathy	G3090A	16S rRNA	-	+	Reported	N/A	2	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	369
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%	26	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%	17	5
3255	MT-TL1	MERRF / KSS overlap	G3255A	tRNA Leu (UUR)	-	+	Reported	75.80%	0	3
3256	MT-TL1	MELAS; possible atherosclerosis risk	C3256T	tRNA Leu (UUR)	-	+	Cfrm	Pathogenic	0	18
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%	32	1
3278	MT-TL1	Poss. hypertension factor	T3278C	tRNA Leu (UUR)	+	-	Reported	13.10%	14	1
3280	MT-TL1	Myopathy	A3280G	tRNA Leu (UUR)	-	+	Cfrm	Pathogenic	0	6
3283	MT-TL1	Late onset ocular myopathy	G3283A	tRNA Leu (UUR)	-	+	Reported	58.70%	0	1
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	3
3290	MT-TL1	Poss. hypertension factor	T3290C	tRNA Leu (UUR)	+	-	Reported	1.40%	114	2
3291	MT-TL1	MELAS / Myopathy / Deafness+Cognitive Impairment	T3291C	tRNA Leu (UUR)	-	+	Cfrm	Pathogenic	0	14
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%	3	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%	16	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%	92	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	9
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%	40	1
4316	MT-TI	HCM with hearing loss / poss. hypertension factor	A4316G	tRNA Ile	+	+	Reported	37.10%	33	2
4317	MT-TI	FICP / poss. Hypertension / DEAF factor	A4317G	tRNA Ile	+	-	Reported	2.10%	37	10
4320	MT-TI	Mitochondrial Encephalocardiomyopathy	C4320T	tRNA Ile	-	+	Reported	25.60%	3	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 / autism spectrum / intellectual disability	T4336C	tRNA Gln	+	+	Unclear	37.30%	403	25
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%	44	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%	156	3
4387	MT-TQ	Poss. hypertension factor	C4387A	tRNA Gln	+	-	Reported	12.80%	0	1
4388	MT-TQ	Poss. hypertension factor; intellectual disability	A4388G	tRNA Gln	+	-	Reported	0.10%	60	2
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; autism spectrum; intellectual disability	A4435G	tRNA Met	+	-	Reported	13.80%	51	8
4437	MT-TM	Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss	C4437T	tRNA Met	+	-	Reported	67.20%	1	1
4450	MT-TM	Myopathy / MELAS	G4450A	tRNA Met	-	+	Cfrm	Pathogenic	0	3
4454	MT-TM	Possible contributor to mito dysfunction / hypertension	T4454C	tRNA Met	+	-	Reported	0.80%	205	3
4456	MT-TM	Poss. hypertension factor	C4456T	tRNA Met	-	+	Reported	32.00%	5	1
4467	MT-TM	Maternally inherited hypertension	C4467A	tRNA Met	-	+	Reported	75.60%	0	1
5513	MT-TW	Mitochondrial encephalomyopathy with RP	G5513A	tRNA Trp	-	+	Reported	32.60%	1	1
5514	MT-TW	Neonatal onset mito disease	A5514G	tRNA Trp	+	-	Reported	19.70%	41	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%	42	2
5568	MT-TW	DEAF	A5568G	tRNA Trp	+	-	Reported	9.70%	7	1
5587	MT-TA	LHON / possible DEAF modifier / dilated cardiomyopathy	T5587C	tRNA Ala	+	-	Reported	12.10%	33	3
5591	MT-TA	Myopathy	G5591A	tRNA Ala	-	+	Reported	68.40%	0	3
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 / gout	T5628C	tRNA Ala	-	+	Reported	78.90%	94	4
5636	MT-TA	PEO	T5636C	tRNA Ala	-	+	Reported	73.50%	0	1
5650	MT-TA	Myopathy	G5650A	tRNA Ala	-	+	Cfrm	Pathogenic	1	6
5652	MT-TA	Dilated Cardiomyopathy	C5652G	tRNA Ala	+	-	Reported	69.90%	0	1
5655	MT-TA	DEAF enhancer	T5655C	tRNA Ala	+	-	Reported	26.70%	313	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%	13	1
5783	MT-TC	Myopathy / deafness / gout	G5783A	tRNA Cys	-	+	Reported	66.90%	43	2
5802	MT-TC	DEAF1555 increased penetrance	T5802C	tRNA Cys	+	-	Reported	58.90%	0	2
5814	MT-TC	Encephalopathy / gout	T5814C	tRNA Cys	-	+	L2b marker	38.80%	140	10
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%	327	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	32
7445	MT-TS1 precursor	SNHL	A7445T	tRNA Ser (UCN) precursor	+	-	Reported	-	3	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%	4	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
7486	MT-TS1	CPEO	G7486A	tRNA Ser (UCN)	-	+	Reported	50.50%	0	1
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	17
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%	39	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%	35	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%	46	1
8344	MT-TK	MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM	A8344G	tRNA Lys	-	+	Cfrm	Pathogenic	4	117
8347	MT-TK	Poss. hypertension factor	A8347G	tRNA Lys	+	-	Reported	2.60%	19	2
8348	MT-TK	Cardiomyopathy / SNHL / poss. hypertension factor	A8348G	tRNA Lys	+	+	Reported	33.80%	117	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	20
9997	MT-TG	MHCM	T9997C	tRNA Gly	-	+	Reported	80.30%	1	4
10006	MT-TG	CIPO / Encephalopathy	A10006G	tRNA Gly	+	-	Unclear	19.30%	8	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%	128	7
10406	MT-TR	Mitochondrial myopathy	G10406A	tRNA Arg	-	+	Reported	72.30%	0	2
10411	MT-TR	Dilated Cardiomyopathy	A10411T	tRNA Arg	+	-	Reported	26.40%	0	1
10415	MT-TR	Dilated Cardiomyopathy	T10415C	tRNA Arg	+	-	Reported	76.50%	0	1
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%	176	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%	103	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%	357	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
12293	MT-TL2	Axial mitochondrial myopathy	G12293A	tRNA Leu (CUN)	-	+	Reported	66.90%	0	1
12294	MT-TL2	CPEO / EXIT+Ophthalmoplegia	G12294A	tRNA Leu (CUN)	-	+	Cfrm	Pathogenic	0	2
12297	MT-TL2	Dilated Cardiomyopathy / LS / Failure to Thrive & LA	T12297C	tRNA Leu (CUN)	+	+	Reported	47.30%	38	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%	5817	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 / possible carotid atherosclerosis risk, trend toward myocardial infarction risk	G12315A	tRNA Leu (CUN)	-	+	Cfrm	Pathogenic	0	13
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	7
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; intellectual disability	A14687G	tRNA Glu	+	-	Reported	7.00%	278	3
14692	MT-TE	LHON helper mut.	A14692G	tRNA Glu	+	-	Reported	2.40%	19	1
14693	MT-TE	MELAS / LHON / DEAF / hypertension helper	A14693G	tRNA Glu	+	+	Reported	39.50%	253	11
14696	MT-TE	Progressive Encephalopathy	A14696G	tRNA Glu	-	+	Reported	22.00%	43	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
15894	MT-TT	Gout	G15894A	tRNA Thr	+	-	Reported	28.20%	29	1
15908	MT-TT	DEAF helper mut.	T15908C	tRNA Thr	+	-	Reported	28.00%	108	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	5
15924	MT-TT	LIMM	A15924G	tRNA Thr	.	.	Reported; hg I marker	22.70%	1680	6
15927	MT-TT	LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD	G15927A	tRNA Thr	+	-	Reported; hg B5b, H72, L2, & X2b marker	16.20%	411	11
15928	MT-TT	Multiple Sclerosis / idiopathic repeat miscarriage / AD protection	G15928A	tRNA Thr	+	-	Reported; hg T marker	20.20%	2321	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%	407	1
15944	MT-TT	MM	T15944del	tRNA Thr	+	-	Conflicting reports	19.90%	717	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%	350	5
15965	MT-TP	Dopaminergic nerve cell death (PD)	A15965G	tRNA Pro	+	-	Reported	2.10%	9	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.