List of European mitochondrial DNA (mtDNA) haplogroups and subclades with their defining mutations
Human Mitochondrial DNA is composed of 16569 base pairs. Two sections are highly polymorphic (i.e. mutations occur more frequently) and known as hypervariable region (HVR). HVR1 locations are numbered 16001-16568. HVR2 locations are numbered 001-574. These are the ones tested by commercial companies for genealogical purposes. These are non-coding regions, which means that mutations have no known medical consequence. There are, however, diseases associated with mtDNA mutations.
Mutations are compared to the Cambridge Reference Sequence representing haplogroup H2. Mutations indicated in red are those going up the tree from H2 to the origins (H2 > H > HV > pre-HV > R > N > L3 > mitochondrial Eve), and are therefore not actual mutations starting from the mitochondrial Eve.
Note that mutations marked by an * do not always occur in this haplogroup or subclade. These are typically HVR mutations.
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Haplogroup H
Defining mutations : 263
H1 subclade
Defining mutations : 3010, 16304*
H2 subclade
Defining mutations : 1438, 4769
H3 subclade
Defining mutations : 6776, 16189*, 16356*
H4 subclade
Defining mutations : 3992, 4024, 5004, 7581, 9123, 14365, 14582, 15497, 15930, 16129*, 16164
H5 subclade
Defining mutations : 456, 16221*, 16304
H6 subclade
Defining mutations : 239, 16362, 16482
H7 subclade
Defining mutations : 4793
H8 subclade
Defining mutations : 146, 195, 709, 13101, 16162*, 16288, 16362
H9 subclade
Defining mutations : 152, 3591, 4310, 9148, 13020, 16168
H10 subclade
Defining mutations : 4216, 5376, 14470, 14548, 16114
H11 subclade
Defining mutations : 195, 961, 8448, 8895, 13759, 16278, 16311
H12 subclade
Defining mutations : 195, 3936, 14552, 16287
H13 subclade
Defining mutations : 2259, 4745, 13680, 14872*
H14 subclade
Defining mutations : 7645, 10217, 11377
H15 subclade
Defining mutations : 55, 57, 1117, 3647, 6253, 10993
H16 subclade
Defining mutations : 10394
H21 subclade
Defining mutations : 186, 310, 3822, 8994, 16192
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Haplogroup pre-HV
Defining mutations : 263, 2706, 7028, 14766
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Haplogroup HV
Defining mutations : 263, 2706, 7028
HV1 subclade
Defining mutations : 8014, 15218, 16067
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Haplogroup I
Defining mutations : 199, 204, 250, 263*, 4529, 10034, 10238, 10398, 15043, 15924, 16129, 16391
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Haplogroup J
Defining mutations : 295, 462, 489, 10398, 12612, 13708, 16069
J1 subclade
Defining mutations : 16261
J2 subclade
Defining mutations : 150*, 152*, 195*, 3010*, 7476, 15257, 16193
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Haplogroup K
Defining mutations : 146*, 1811, 3480, 9055, 9698, 10550, 11299, 14167*, 14798, 16224, 16311
K1 subclade
Defining mutations : 523.*, 1189, 10398, 16320*
K2 subclade
Defining mutations : 9716, 16093*
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Haplogroup N
Defining mutations : 73, 263, 2706, 7028, 11719, 12705, 14766, 16223
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Haplogroup R
Defining mutations : 73, 263, 2706, 7028, 11719, 14766
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Haplogroup T
Defining mutations : 709, 1888, 4917, 8697, 10463, 13368, 14905, 15607, 15928, 16294
T1 subclade
Defining mutations : 152*, 195*, 16186*, 16189*
T2 subclade
Defining mutations : 11812, 14233, 16153*, 16296*, 16304*
T3 subclade
Defining mutations : 16188*, 16257*
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Haplogroup U
Defining mutations : 73, 7028, 11719, 12308, 12372, 14766
U1 subclade
Defining mutations : 285, -4990, 12879, 13104, 14070, 15148, 15954, 16189*, 16249
U2 subclade
Defining mutations : 152*, 1811, 15907, 16051, 16129*
U3 subclade
Defining mutations : 150, 14139, 15454, 16343
U4 subclade
Defining mutations : 195, 4646, 6047, 11332, 14620, 15693, 16356*
U5 subclade
Defining mutations : 3197, 9477, 13617, 16192*, 16270
U6 subclade
Defining mutations : 3348, 16172, 16219*
U7 subclade
Defining mutations : 980. 5360, 10142, 16318*
U8 subclade
Defining mutations : 9698
U9 subclade
Defining mutations : 3531, 3834, 6386, 14094
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Haplogroup V
Defining mutations : 72*, 4580, 15904, 16298*
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Haplogroup W
Defining mutations : 189, 195, 204, 709, 5046, 5460, 7864*, 8251, 8994, 12414*, 16292*
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Haplogroup X
Defining mutations : 153, 195, 6221, 6371, 13966, 14470, 16189, 16278
X1 subclade
Defining mutations : 146, 3531, 13785, 13879, 14560, 15672
X2 subclade
Defining mutations : 225, 226, 227, 1719
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