35 Full-Sequence mtDNA Results and Subclades

From Haplogroup K Project

March 26, 2007


This CHART, as discussed below, represents the current 35 members of the mtDNA Haplogroup K Project at FamilyTreeDNA who have received results from full-sequence mtDNA tests. Two more tests are in progress. I last published a similar chart when there were only eight tests available. The chart was produced using Fluxus-Engineering Network software, using both the Reduced Median and Median Joining algorithms. The input file was created using Tom Gladís mtDNAtool.


On the chart, KROOT represents the ancestral K haplotype, as shown in this MitoSearch entry; so all mutations on the chart occurred since the founding of K. With one exception, I have used all of the HVR mutations on each individualís K Project entry. Instead of using one, two or three pairs of the position 524 insertions I have used ď524iĒ to simplify the chart. However, the coding-region (CR) mutations used were not from the individualís full-sequence test results, since I donít have access to all of those and some may contain medically-relevant information. Instead, I have used the coding-region mutations which define the various assigned subclades from Dr. Doron Beharís 2006 paper which contains the current ďofficialĒ K tree.


From KROOT, the line to the right is one of the two major divisions of K, K2, which is defined by several CR and HVR mutations. There are three K2a entries which differ only by one having the insignificant heteroplasmic mutation 309.1C. The difference in nomenclature between K2a and K2a* is not significant; they should all be the same. The addition of several CR mutations and 512C leads to one example of the Ashkenazi subclade K2a2a. No examples have appeared from K2b or K2c.


Mutations 1189 and 10398 define the other major K division, K1. Three major subclades diverge from branching point mv11. The first shown is K1c, defined by 498- and two other HVR mutations. There are no examples of a plain K1c; if one exists it would be at mv12. K1c2 is defined by 16320T and three CR mutations. Three examples are shown. K1c1 is defined only by CR mutations; there is only one example so far.


K1b is defined by the CR mutation 5913. My substitute term ď524iĒ for the length-heteroplasmic 524 insertions makes its first appearance here. Although the three examples here have these insertions, in reality they only appear in about half of K1b haplotypes. K1b2, defined by one HVR and two CR mutations, has two different haplotypes here. K1b1 is defined by three CR mutations, but here there is only one example of its lower subclade K1b1a. Thatís defined by three more CR mutations and two HVR ones, mainly 16319A. Most of these, including the current example, also have 16463G. No examples of K1b1b or K1b1c have been tested in the Project.


K1a, defined solely by HVR2 mutation 497T, is usually about 60% of K. Here it is somewhat overrepresented at almost 69%. Branching off to the right from mv8 is the largest group K1a1, defined by 11914. There is one example of this subclade as well as one K1a1a, defined by one more CR mutation. The larger branch is that of K1a1b, defined by 15924. One example of the basic subclade has four additional HVR mutations. K1a1b1 is defined by adding 11470. Two separate examples based on Beharís chart tree are shown, one of which has picked up the interesting mutation 114T. Beyond mv7 are five examples of the largest Ashkenazi subclade K1a1b1a, which is defined by two CR mutations and 16234T. Behar shows 114T below 16234T; it just happens that these five examples all have it. 16223T usually occurs in a higher percentage of this subclade than the one-of-five represented here.


Note that the remaining examples from mv8 up have 524i. When 524i appears again, that means either there was a back mutation, or perhaps more likely, the lines never had 524 insertions.


K1a* is more or less a grab-bag of K1a haplotypes which donít have the mutations to be in lower subclades K1a1 through K1a9. There are six of those here. Five of them have 195C, which I have discovered includes about 19% of the Ks on MitoSearch as opposed to the 8.5% on Beharís tree. I think the difference is the larger representation of British Isles and especially Ireland origins in MitoSearch than in the populations used by Behar. Half of these here have 16048A, which defines a large, mostly Irish cluster, to which I have given the temporary name K1a10. K1a9, the third Ashkenazi subclade, is defined by 16524G. It never has 524 insertions. Both K1a9 and K1a10 never have insertions at position 309, which is unusual for K at least.


Up from mv9, defined by four CR mutations is the large subclade K1a4a1, represented by five different haplotypes, only one of which doesnít have the 524 insertions. This is the largest subclade which canít easily be predicted from HVR results, since it has no defining HVR mutations. Two examples have 16261T; the jury is still out on its significance.


No examples have tested so far from subclades K1a2, K1a3, or from K1a5 to K1a8. All those are defined only by CR mutations.


In general, the 35 tests are a fair representation of K as shown on Beharís tree. The exceptions were discussed above. There are missing subclades, but consider that Beharís tree was based on 117 samples. The total of 37 full-sequence tests ordered in the K Project is 9.7% of the 382 K Project members who tested at FTDNA.


Anyone who has tested as a K, especially if you have full-sequence results, is invited to join the K Project by clicking on the blue Join button on your FTDNA personal page. Additional information is available at our website.


©2007 William R. Hurst

Administrator, mtDNA Haplogroup K Project