MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR. We no longer accept direct variant submissions here at Mitomap.

To submit sequences to GenBank, use the BankIt tool. (We pull sequences from GenBank 3-4 times a year to add to Mitomap's database.)

If you would like to submit published data and articles to be included in mitomap, please send the citation & a pdf file to mitomap@email.chop.edu.

Also see the submission index

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Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation	Position	Nucleotide Change	Amino Acid Change	Locus / Gene	Patient Group / Phenotype	Ethnographic Info
20010828010	4216	T-C	Y-H	MT-ND1	Sporadic Parathyroid Adenoma	-
20010828028	10775	A-G	V-I	MT-ND4	Sporadic Parathyroid Adenoma	-
20010303008	11696	G-A	V-I	MT-ND4	Breast Cancer	Caucasian
20030912001	3242	G-A	tRNA	MT-TL1	Myelodysplastic Syndrome (MDS)	Caucasian
20070612001	4363	T-C	tRNA	MT-TQ	Normal	Saudi Arabs
20110722001	7455	A-G	tRNA	MT-TS1	HEARING IMPAIRED	ASIAN
20111212001	14705	G-C	tRNA	MT-TE	Diabetes, Myopathy,Hearing impairment
20040720016	14207	G-A	T-I	MT-ND6	Breast Cancer	Caucasian
20010303006	4021	A-G	T-A	MT-ND1	Breast Cancer	Caucasian
20010828019	8812	A-G	T-A	MT-ATP6	Sporadic Parathyroid Adenoma	-
20010303004	11723	A-G	T-A	MT-ND4	Breast Cancer	Caucasian
20011206001	3351	C-T	syn	MT-ND1	Unknown cardio-facio-cutaneous syndrome	Caucasian
20010301007	3921	C-A	syn	MT-ND1	Breast Cancer	Caucasian
20040912001	3993	A-G	syn	MT-ND1	Normal	Arabs
20010828009	4188	A-G	syn	MT-ND1	Sporadic Parathyroid Adenoma	-
20040720010	4562	A-G	syn	MT-ND2	Breast Cancer	Asian
20040720014	4973	T-C	syn	MT-ND2	Breast Cancer	Caucasian
20010301002	5198	A-G	syn	MT-ND2	-	Caucasian
20040720015	5285	A-G	syn	MT-ND2	Breast Cancer	Caucasian
20010301004	5471	G-A	syn	MT-ND2	-	Caucasian
20010828013	6026	G-A	syn	MT-CO1	Sporadic Parathyroid Adenoma	-
20010828015	6656	C-T	syn	MT-CO1	Sporadic Parathyroid Adenoma	-
20000402001	7058	T-C	syn	MT-CO1	Leigh Syndrome	Caucasian
20010828016	7220	T-C	syn	MT-CO1	Sporadic Parathyroid Adenoma	-
20010828017	7963	A-G	syn	MT-CO2	Sporadic Parathyroid Adenoma	-
20010828025	9656	T-C	syn	MT-CO3	Sporadic Parathyroid Adenoma	-
20010828026	10325	G-A	syn	MT-ND3	Sporadic Parathyroid Adenoma	-
20010828027	10754	A-C	syn	MT-ND4L	Sporadic Parathyroid Adenoma	-
20060122001	11260	T-A	syn	MT-ND4	Mitochondrial Myopathy	Caucasian
20010828029	11617	T-C	syn	MT-ND4	Sporadic Parathyroid Adenoma	-
20010303001	11734	A-G	syn	MT-ND4	Breast Cancer	Caucasian
20040720011	11878	T-C	syn	MT-ND4	Breast Cancer	Asian
20010424005	12372	G-A	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20040720012	12438	T-C	syn	MT-ND5	Breast Cancer	Asian
20100212001	12588	C-T	syn	MT-ND5	sensorineural hearing loss	Caucasian
20040720013	12630	G-A	syn	MT-ND5	Breast Cancer	Asian
20010822001	12813	C-T	syn	MT-ND5	Myopathy, Tremor	Caucasian
20010828030	12879	T-C	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828031	12954	T-C	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20010927001	13239	C-T	syn	MT-ND5	Mental Retardation	Italian
20010828032	13392	T-C	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828033	13392	T-C	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828034	13422	A-G	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20041212001	13539	A-G	syn	MT-ND5	LHON	Arabs
20010828036	13743	T-C	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828037	14070	A-G	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828038	14364	G-A	syn	MT-ND6	Sporadic Parathyroid Adenoma	-
20010424008	14386	T-C	syn	MT-ND6	Sporadic Parathyroid Adenoma	-
20011206002	15016	C-T	syn	MT-CYB	Myopathy (unknown)	Caucasian
20010828039	15148	G-A	syn	MT-CYB	Sporadic Parathyroid Adenoma	-
20010303007	10707	T-G	S-A	MT-ND4L	Breast Cancer	Caucasian
20041220011	1700	T-C	rRNA	MT-RNR2	Oral Cancer	Asian Indian
20041220013	1811	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Gujarati
20041220010	2232	A-AAA	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20041220014	2361	G-A	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20041220016	2396	C-T	rRNA	MT-RNR2	Oral Cancer	Asian Indian
20041220015	3116	C-T	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20041220012	3197	T-C	rRNA	MT-RNR2	Oral Cancer	Asian Indian
20041220017	3220	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian
20010828022	9426	C-T	P-S	MT-CO3	Sporadic Parathyroid Adenoma	-
20010828024	9426	C-T	P-S	MT-CO3	Sporadic Parathyroid Adenoma	-
20010828008	3591	G-A	P-L	MT-ND1	Sporadic Parathyroid Adenoma	-
20010303003	147	C-T	noncod	D-Loop	Breast Cancer	Caucasian
20010424001	253	C-A	noncod	D-Loop	Sporadic Parathyroid Adenoma	-
20010828002	285	C-T	noncod	D-Loop	Sporadic Parathyroid Adenoma	-
20081112001	930	G-C	noncod	MT-RNR1	Normal	Yakut
20010828003	1007	G-A	noncod	MT-RNR1	Sporadic Parathyroid Adenoma	-
20010828004	1700	T-C	noncod	MT-RNR2	Sporadic Parathyroid Adenoma	-
20010301006	1703	C-T	noncod	MT-RNR2	Breast Cancer	Caucasian
20010828005	2218	C-T	noncod	MT-RNR2	Sporadic Parathyroid Adenoma	-
20010828006	3160	A-T	noncod	MT-RNR2	Sporadic Parathyroid Adenoma	-
20081202001	4395	A-G	noncod	MT-TQ	cardiomyopathy	Afrique
20010828011	4418	T-C	noncod	MT-TM	Sporadic Parathyroid Adenoma	-
20010301008	12237	C-T	noncod	MT-TS2	Breast Cancer	Caucasian
20010303002	12251	A-G	noncod	MT-TS2	Breast Cancer	Caucasian
20081212001	16292	C-T	noncod	D-Loop	normal	Veddah
20100822001	73	A-G	non-coding	Control Region	Oral Cancer	Indian- Bengali
20040720017	498	C-del	non-coding	Control Region	Breast Cancer	Asian
20110302001	571	C-A	non-coding	Control Region	complex I deficiency
20010301003	4917	A-G	N-D	MT-ND2	-	Caucasian
20010828007	3397	A-G	M-V	MT-ND1	Sporadic Parathyroid Adenoma	-
20010828021	8987	A-G	M-V	MT-ATP6	Sporadic Parathyroid Adenoma	-
20010424002	4172	T-C	L-P	MT-ND1	Sporadic Parathyroid Adenoma	-
20010303005	14783	T-C	L-I	MT-CYB	Breast Cancer	Caucasian
20010828020	8953	A-G	I-V	MT-ATP6	Sporadic Parathyroid Adenoma	-
20010424007	13577	T-C	I-T	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828012	4640	C-A	I-M	MT-ND2	Sporadic Parathyroid Adenoma	-
20010424003	5026	A-G	H-R	MT-ND2	Sporadic Parathyroid Adenoma	-
20010424004	10522	G-A	G-E	MT-ND4L	Sporadic Parathyroid Adenoma	-
20010424006			Frameshift	MT-ND4	Sporadic Parathyroid Adenoma	-
20010828001			Frameshift	MT-ND1	Sporadic Parathyroid Adenoma	-
20010828018	8602	T-C	F-L	MT-ATP6	Sporadic Parathyroid Adenoma	-
20010301001	11087	T-C	F-L	MT-ND4	-	Caucasian
20010301005	15257	G-A	D-N	MT-CYB	Breast Cancer	Caucasian
20081022001	10680	G-A	A-T	MT-ND4L	LHON	Han Chinese
20010828035	13708	G-A	A-T	MT-ND5	Sporadic Parathyroid Adenoma	-
20010828014	6570	G-T	A-S	MT-CO1	Sporadic Parathyroid Adenoma	-
20120312001	6498				Hearing loss and optic atrophy	Caucasian/Africain
20121022001	6996				control/normal/healthy	Caucasian/Middle European
20140422001	15530	T-del		MT-CYB	Breast cancer	Senegalese

Insertions

Details and Citation	Pre-position	Insert	Locus / Gene	Patient Group / Phenotype	Ethnographic Info
20030528021	1	G	Control Region	Oral Cancer	Asian Indian- Marathi
20030528067	54	G	Control Region	Oral Cancer	Asian Indian- Muslim
20120907004	56	G			European
20101209001	60	T	Control Region	Lung Cancer	Caucasian
20030528051	71	G	Control Region	Oral Cancer	Asian Indian- Marathi
20030528125	145	A	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528158	151	A	Control Region	Oral Cancer	Asian Indian
20030528032	177	T	Control Region	Oral Cancer	Asian Indian- Marathi
20030527036	179	T	Control Region	Oral Cancer	Asian Indian- Bengali
20030527041	250	T	Control Region	Oral Cancer	Asian Indian- Bengali
20060605006	292	AT	Control Region	Normal	Indigenous group-Temuan
20090714001	302	C	D-Loop	Aminoglycoside-induced hearing loss	Caucasian
20101227004	311	C	Control Region	Oral cancer	Asian-Bengali
20060605008	356	C	Control Region	Normal	Indigenous group-Temuan
20050106006	455	T	Control Region	Normal	Caucasian
20130520001	455	455.1T	Control Region		S\xE3o Paulo
20130520004	463	463.1C	Control Region
20130520005	463	463.1C	Control Region
20130520006	463	463.2C	Control Region
20090714002	513	CACA	D-Loop	Aminoglycoside-induced hearing loss	Caucasian
20090714003	513	CA	D-Loop	Aminoglycoside-induced hearing loss	Caucasian
20091228002	513	CA	D-Loop	NSHL	Caucasian
20091228003	513	CA	D-Loop	NSHL	Caucasian
20091228004	513	CA	D-Loop	NSHL	Caucasian
20050331001	514	ACA	Control Region	Leigh Syndrome	Russian
20091031001	524	AC	D-Loop	Normal	Malay
20060831001	525	AC	Control Region	-	-
20090714004	567	CCC	D-Loop	Aminoglycoside-induced hearing loss	Caucasian
20091031002	573	C	D-Loop	Normal	Kelantan Malays
20110421001	792	T	MT-RNR1		Hispanic Father, Caucasian Mother
20110302020	1659	TT	MT-TV	complex I deficiency, hepatopathy, hypertrophic cardiomyopathy, gastrointestinal bleeding, muscular hypotonia
20041220010	2232	AA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20140729005	2236	A	MT-RNR1	CAD+T2DM	Asian Indian
20140729008	3159	T	MT-RNR2	CAD+T2DM	Asian Indian
20010828001	3566	C	MT-ND1	Sporadic Parathyroid Adenoma	-
20140630011	3571	C	MT-ND1	Glioma
20040209029	10800	T	MT-ND4	Oral Cancer	Asian Indian
20040209019	10815	A	MT-ND4	Oral Cancer	MARATHI
20040209008	10816	A	MT-ND4	Oral Cancer	MARATHI
20040209013	10817	T	MT-ND4	Oral Cancer	MARATHI
20040209027	10817	AT	MT-ND4	Oral Cancer	SINDHI
20040209009	10824	GTA	MT-ND4	Oral Cancer	MARATHI
20040209020	11274	G	MT-ND4	Oral Cancer	MARATHI
20040209010	11711	G	MT-ND4	Oral Cancer	MARATHI
20040209052	11820	T	MT-ND4	Normal	MARATHI
20040209053	11826	G	MT-ND4	Normal	MARATHI
20140630012	11872	C	MT-ND4	Glioma
20040209043	11938	TC	MT-ND4	Oral Cancer	MARATHI
20140422007	15588	TA	MT-CYB	Breast cancer	Senegalese
20140422029	15664	A	MT-CYB	Breast cancer	Senegalese
20140731014	15864	A	MT-CYB	CAD+T2DM	Asian Indian
20100908007	16190	C	Control Region	Oral cancer	Asian-Bengali
20060605003	16192	T	Control Region	Normal	Indigenous group-Bidayuh
20140731016	16197		Control Region	CAD+T2DM	Asian Indian
20130520007	16285	16285.1A	Control Region
20030528065	16496	G	Control Region	Oral Cancer	Asian Indian- Muslim
20030528066	16564	A	Control Region	Oral Cancer	Asian Indian- Muslim

Deletions

Details and Citation	Position	Length	Locus / Gene	Patient Group / Phenotype	Ethnographic Info
20140731008			MT-ND5	CAD+T2DM	Asian Indian
20030528111	25	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528084	36	1	Control Region	Oral Cancer	Asian Indian- Marathi
20140724001	56	1	Control Region	CAD+T2DM	Asian Indian
20030528112	60	1	Control Region	Oral Cancer	Asian Indian- Marathi
20140630009	71	1	Control Region	Glioma
20030528068	72	1	Control Region	Oral Cancer	Asian Indian- Muslim
20030528113	105	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528052	114	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528140	125	1	Control Region	Oral Cancer	Asian Indian
20030527004	131	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528114	132	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528115	133	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030527023	135	1	Control Region	Oral Cancer	Asian Indian
20030528053	139	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528141	140	1	Control Region	Oral Cancer	Asian Indian
20030527024	142	1	Control Region	Oral Cancer	Asian Indian
20030529027	143	1	Control Region	Oral Cancer	Asian Indian
20030528116	145	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528153	146	1	Control Region	Oral Cancer	Asian Indian
20030528142	151	1	Control Region	Oral Cancer	Asian Indian
20030529002	152	1	Control Region	Oral Cancer	Asian Indian- Bihari
20140513002	152	1pb	Control Region	Breast cancer	Senegalese
20030529028	155	1	Control Region	Oral Cancer	Asian Indian
20030528143	156	1	Control Region	Oral Cancer	Asian Indian
20030528144	157	1	Control Region	Oral Cancer	Asian Indian
20030529003	159	1	Control Region	Oral Cancer	Asian Indian
20030529021	160	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030529005	165	1	Control Region	Oral Cancer	Asian Indian- Bihari
20030529031	165	1	Control Region	Oral Cancer	Asian Indian
20030529006	166	1	Control Region	Oral Cancer	Asian Indian- Bihari
20030528145	167	1	Control Region	Oral Cancer	Asian Indian
20030528155	168	1	Control Region	Oral Cancer	Asian Indian
20030528146	176	1	Control Region	Oral Cancer	Asian Indian
20030528147	177	1	Control Region	Oral Cancer	Asian Indian
20030529022	178	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030527026	181	1	Control Region	Oral Cancer	Asian Indian
20030527009	216	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528055	217	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528011	294	1	Control Region	Oral Cancer	Asian Indian- Bengali
20040720017	494	1	Control Region	Breast Cancer	Asian
20111018001	498	1	Control Region	normal	Mestizo / Colombian
20091031003	513	1	D-Loop	Normal	Kelantan Malays
20091031004	514	1	D-Loop	Normal	Kelantan Malays
20050330001	515	2	Control Region	Leigh Syndrome	Russian
20030415001	516	2	Control Region	Deafness	Asian
20101227003	523	1	Control Region	Oral cancer	Asian-Bengali
20071219003	1139	1	MT-RNR1	Normal	Caucasian
20140630010	2949	5	MT-RNR2	Glioma
20140214012	7402	1	MT-CO1	isolated complex IV deficiency	Caucasian
20071219005	7466	1	MT-TS1	Normal	Caucasian
20140214010	9203	2	MT-ATP5	hypotonia, deafness and pyramidal signs
20140630003	9477	1	MT-CO3	Temporal lobe epilepsy with hippocampal sclerosis
20140214024	10224	2380	MT-ND3 and following	Kearns-Sayre syndrome	Caucasian
20010424006	11038	1	MT-ND4	Sporadic Parathyroid Adenoma	-
20040209034	11797	1	MT-ND4	Oral Cancer	MARATHI
20140214023	12113	2309		myopathy	Caucasian
20140630004	14812	1	MT-CYB	Temporal lobe epilepsy with hippocampal sclerosis
20140422001	15530	1pb	MT-CYB	Breast cancer	Senegalese
20140422003	15568	1pb	MT-CYB	Breast cancer	Senegalese
20140422006	15585	1pb	MT-CYB	Breast cancer	Senegalese
20140422009	15592	1pb	MT-CYB	Breast cancer	Senegalese
19990316054	15944	1	MT-TT	-	-
20030528040	16051	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528012	16053	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030527031	16054	1	Control Region	Oral Cancer	Asian Indian- Bengali
20030528072	16054	1	Control Region	Oral Cancer	Asian Indian- Marathi
20030528089	16059	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528042	16110	1	Control Region	Oral Cancer	Asian Indian- Marathi
20090928001	16166	1	D-Loop	Normal	Malay
20030528050	16366	1	Control Region	Oral Cancer	Asian Indian- Marathi
20100908004	16391	1	Control Region	Oral cancer	Indian- Bengali
20030528093	16419	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528094	16420	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528095	16437	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528096	16451	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528097	16460	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528098	16465	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528099	16475	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528100	16485	1	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528101	16494	1	Control Region	Oral Cancer	Asian Indian- Gujarati

Complex

Details and Citation	Type	Locus / Gene	Patient Group / Phenotype	Ethnographic Info
20050119001	duplication	Control Region	Normal	Iraqi

Others