Hello Peiternella, Thanks for your comments. I tested with FTDNA. I agree that H1F is defined by 4452C, 7309C, 9066G and 16093C. The reason I'm H* is that I do not have 3010A which is required for H1. Regards, Mardon

Mardon you are like me and have a few disscusions going on in a few H forums. I placed a reply to you and Brian in Facebook and a link to another H forum. cheers

Hello, could you please help me interpret my mtDNA? I've received a bunch of numbers, but don't know how to deal with it? I'm H1f,

HV1: 16093C 16183C 16189C 16193.1C 16519C
HV2: 263G 309.1C 315.1C
HV3: 408A
Thanks for your time, it's appreciated

Hi R vd Berg, first off, who did your mtDNA sequence?
I am currently building an H database so I can get an understanding of how and why some companies determine what sub clade we are in (or in my case not).23and me are not so reliable for mtDNA defining, I have been told.
Your mutations are interesting as to be a H1 you need (or so I believed with FTDNA) the mutation 3010A -you do not have this!. But you do have 16189C which is one of the mutations that defines H1f along with 4452C, 7309C, 9066G, 16093C, which you do not have, also.This is why I would like to know what company you used if you do not mind me asking, please. All your other mutations are pretty standard for most of us Hs, However, you have an insertion in 16193c to16193.1C which, so far, I have not come across.
Have you submitted your mtDNA results to Genebank. All very simple, a lovely man called Ian Logan will do it for you. Copy and paste link and you will see how to go about it. http://www.ianlogan.co.uk/Submission.htm.
May have permission to add your data to my database (if you have not submitted to Genebank that is)?
Cheers

My results were similar, albeit missing 3 in HVR1. I was tested at FTDNA who declared me H3.

HVR1: 16093C 16519C

HVR2: 263G 309.1C 315.1C 408A

Coding Region: 750G 1438G 4769G 6776C 8860G 15326G

Hi Jeff, your results are classic H3 like mine with standard mutations that most share.I have 12811C( with 2 others on the database) which appears to be a yet undefined sub branch of H3 . Maybe your 408A mutation will one day define another sub-branch of H3 but I have yet to see it my data base(still got heaps to put on it-waiting for partner to finish a programme so I will not have to manually do it)
Would you be will to also give me your mutations details via email to please. This is confidential as I will not be using your name or publishing papers etc(to dumb for that Lol). Cheers

Hi Peiternella,
It looks like the H3 project at FTDNA will be putting me in "Cluster D", as I match the others there who also share 408A. As of yet though, I'm still unassigned.

I followed your earlier advice regarding Genbank and my accession number is GU997629. I haven't been there yet to try to figure out BLAST and see if my data has been posted, but it should be available now. If you'd still like an email, let me know, otherwise feel free to add the info to your database.

Dear Peiternella, I've let my mtDNA checked by www.dnaheritage.com
It took them 3 months to get these results. Alastair Greenshields is the principle overthere. Do you have doubts about their methodes? I've paid 130 USD for this mtDNA research. Thank you for your time

Hi Suzzanna,

I have done HVRI and II and I can't find a database to find out the haplogroup using HVRII. I was able to find http://nnhgtool.nationalgeographic.com/classify/index.html for region I. Can you suggest a database for region II?

Hi Maria, Did your testing company inform you want haplogroup your are in? If not then you can look up want mutations you have or not have on this link below.
http://www.genebase.com/blog/?p=30
Explore the rest of the site to...it is great for us Hs also.
Sometimes HVR1 and HVR2 are not detailed enough to define what sub clade you are in. Cheers

Please excuse my poor reading -I meant to say 'what' mutations not 'want' :)

No company as I work in a genetics lab and I did it myself. Just that I work with non human DNA and I can't find a DB to enter the mutations of HVR2. HVR1 show I'm H and like you say, I don't think HVR2 will show enough resolution for a sub group. I'll check tomorrow at work. Thanks!!!

What animal DNA do you work with Maria? Interesting to see that all mtDNA for our beloved dogs is wolf. Do you know if the wolf DNA is region specific or if they can place a particular breed? Your job must be rather interesting.This DNA stuff is so fascinating and a big time waster along with distance running for me....not enough time in a day for two compulsive hobbies.
Can I ask what your mutations are, if you don't mind. I am building an H database and getting data of the papers on Phylotree -link below, another good site
.http://phylotree.org/
join and place your details and see if you get any matches, plus you may get an idea of what your sub clade maybe! Good luck

I recently had my mtDNA tested by the Genograhic Project and received the result that I am Haplogroup H. The only mutations listed were 16093C and 16519C. When looking at a mtDNA haplogroup chart on Family Tree DNA site, I see that different mutations are required to be H. Please help clear up my confusion.

E. Collins: The Genographic Project page at:
https://genographic.nationalgeographic.com/genographic/lan/en/parti...
describes that they only test HyperVariable Region 1 (HVR1, positions 16001 to 16569). They do not test HyperVariable Region 2 (HVR2, positions 00001 to 00574) nor the coding Region (CR, positions 00575 to 16000). Without a full sequence test of all the positions in your mitochondrial DNA, you will not be able to tell in which mtDNA H-subclade (if any) you belong. If you want a full sequence mtDNA test you will have to buy it from one of the labs that offers this service. I got mine at FamilyTreeDNA.com
Mardon

ok, for HVR1 i have 16111A 16304C which puts me right on H5! I did HVR2 and have the obvious 263G and 373G which is not diagnostic for anything. I'll have to get some SNPs to see if I'm H5a.
Best web I found for finding haplogroups by entering mutations is Ian Logan's!
http://www.ianlogan.co.uk/haplogroup/finder.htm
Now, I don't know about dogs as I work with marine organisms :)

Hi E Collins, I think you are wondering how the Genograhic Project defined you as an H is because you dint have the mutations 2706A, 7028C which all other haplogroups tested people have.
Your mutation 16093c is one of the
H1f 4452C, 7309C, 9066G, 16093C, 16189C however you need 3010A (this mutation defines H1. You need a full sequence, as Mardon has mentioned, to actually find out what sub branch you are in. Hope this has helped some.

Hi Maria, marine organisms hey! Interesting stuff. Handy you can do your own test...jealous LOL.Mardons comments below cover what you need to test for yourself so you can find out what H5 sub branch or clade you maybe in. H5 is cool, not to many of them guys around.Good luck in the lab and keep us posted. I am most interested to hear what you are. CHeers

Well, I won't do a full sequence as I could just test around the 4336 mutation which is diagnostic for H5a according to Achilli et al. 2004.
Here's what's interesting: my boss appears to be H12 so I'll check for 3936 to make sure. I've been researching the publications on H12 and found nothing. We are a weird bunch!

Heres an interesting exercise , guess what branch of H6 this following sequence is
using FTDNA mutation list and phylotree
T195C T239C A263G 315.1C A750G A1438G G3915A A4727G A4769G A8860G G9380A T10237C T11204C T11253C A15326G T16362C A16482G

Is this a 'trick' question? :)

Here's how I'd figure it (without even assuming that the H6 you've provided is correct):

Start at rCRS
A263G, A8860G, A15326G ---> H2a2
A750G ---> H2a
A4769G ---> H2
A1438G ---> H
T16362C ---> H6/H8
T239C, A16482G ---> H6
G3915A ---> H6a
A4727G, G9380A ---> H6a1
T11253C ---> H6a1a

This leaves SNPs T10237C and T11204C unaccounted for.

H6a1a1 requires an SNP at rCRS 5460 so this haplotype is NOT that subclade.

I therefore conclude that the haplotype you've provided is for a yet-to-be-defined subclade of H6a1a. Am I close of have I missed something?

I got that too.But it is not submitted to Genbank as that !!!!. I put that sequence into my data base as H6a1a1 but not because it did not have 5460- they don't have 7325G, 9362 or at least one of them. I see a few sequences that do not have a all or even a branch mutation but can have all the clade mutations- you see a pattern when they are all in a group so it sticks out like a 'horses bottom' when they are or not. I have allowed for back mutation as my partner (has been guiding me) likes to point out that back mutations are not to uncommon and he has also found many wrong branch defining in his W group. Pete has a science degree in Geology but also did a year in Univesity intermediate biology so has a fantastic grasp of the subject. I feel so dumb sometime or actually most the time when he goes on about the maths side of DNA and much much moreLOl

Hi Peiternella,

I'd like to understand better why you've put that haplotype into H6a1a1 instead of stopping at H6a1a*. Can you explain that part a little more?

For mtDNA haplotypes that have an upstream SNP missing when it 'should' be present according to the known downstream SNPs, I'd think first about the possibility of a data error.

I know from personal experience that SNP calls produced by genechip technology are subject to error rates large enough that they cannot be ignored. My mtDNA calls generated from the Illumina HumanHap550+ beadchip that 23andME uses contained several errors when compared to the direct sequencing done by FTDNA for my mtFullSequence test. If you are including data in your database that comes from genechip calls, then I think you can expect some incorrect calls. As I understand it, mtDNA is especially problematic for genechips.

Another possibility is that a human has made a transcription error somewhere in the path between the laboratory and the results that eventually get sent to you.

Your point about back mutations is an interesting one. I don't know how back mutations are supposed to be treated within the mtDNA Haplogroup Tree. I would suppose if a child of a person who was H6a1a developed a back mutation for rCRS position 3915, thereby putting position 3915 back to G from A, then the tree ought to show such a person in a new subclade of H6a1a and not in a new subclade of H6. That's just what seems logical to me. I don't have any idea if there are 'rules' as how back mutation are to be handled in the tree. Do you know?

Mardon

AHHH crap!, I put a 1 on the end of H6a1a. Actually this sequence is at genbank as a H6a1. This is quite new as I saw it on Ian Logans reports to Genealogy DNA newsletter
HM124476 FTDNA Haplogroup H6a1 26-APR-2010
T195C T239C A263G 315.1C A750G A1438G G3915A A4727G A4769G A8860G
G9380A T10237C T11204C T11253C A15326G T16362C A16482G.
Now my partner treats the back mutations as:
if they have all the mutations that are in a particular Haplogroup sub branch but are missing that sub branch defining code
ie I have an H3 that shares nearly all the mutations with Hf but is missing 93G and they also share a unique private mutation, so he has classed it among the HF but still named it H3 as he says the phylotree changes as new data comes in. So far I have not come across a major sub branch mutation back-mutation but my partner has had a couple and he showed me their position on his data base. He said you can see the pattern of the mutations and that they are from that particular branch. When they are laid out you see patterns. Our H mutations on Phylotree are a mess-would you not agree?
This was a FTDNA sequence not 23andme.

Also Mardon, My partner foams at the mouth over lack of up to date papers being written and how the public, who are paying for the sequencing to be done so they can follow genealogy through Phylogenetic study, are being left in the dark and the academics are using this data but not hurry to publish or actually give some data that is actually relevant to genealogy study ,as such.
I trust his judgement on reading sequences more than Phylotree and 'our dragging in the sand' FTDNA. We do not get much info or what is really happening in our projects He is in a private Haplogroup project where they share photos, family news, personal interests and they always seem to be online discussing dna or just random stuff -just like a club -his group at FTDNA, where he is co admin there, are not very active but not as pitiful as our H group.!!!
Hope I have made sense. in both emails. I am home bored and lack focus LOL got my leg in plaster and I am not good at sitting idle. I was so trained for a marathon .Was feeling so fit and ready.... sob sob.
If you like I can email you a sample H3 data base he made for me just so I could look at what data there was around. It is old now and not to current.
excuse spelling and grammer please LOL. Proof reading I should do obviously!!!

Not to disappoint you, but papers (particularly good papers) take a long time. First you do the actual research, then you write, someone reviews it, then its sent to the journal where it is peer reviewed, it usually comes back with comments, you rewrite it with the needed changes, you send it back and with luck it gets published. If it's not accepted, you start all over again.
Having said that, there should be something more than what we have for the H group. Last week I found an interesting and recent paper on this group. I'll forward the link tomorrow as I have it at work.

cheers Maria and yes I realise about papers can take time. However my partner talks about 2004 being the last paper he has seen on his particular Haplogroup. I look forward to the new paper.

Mardon here is an example of an H2a2b1 missing H2 branch mutation 1438A
HM107111 FTDNA Haplogroup H2a2b1 26-APR-2010
A263G 309.1C 315.1C C3388A A8860G A15326G A16235G C16291T A16293G C16400T

Hi Mardon, I have completed the database with all the sequences available at Genbank
Even when I compare you with other sequences to look for patterns, and allowing for a possible back mutation of a defining motif, there are none as yet.
Comparing your motifs,
G16438A,
A16212G, to others in the database, shows that you are unique and that maybe at FTDNA ( they must have heaps of full sequences that are not at Genbank) A8638G shows only 2 on my database you and an H30 but you have nothing else in common with that H30.
.
G16438A are on MitoWheel it says that there are 4 out 3735 on their database and A16212G 13 out of 3735.
Maybe you are another sub branch of H, using A16212G G16438A

Thanks for the information Peiternella. I'm also somewhat unusual on the Y side where I'm Q1a3*.

At FTDNA my mtDNA matches page shows 2 low resolution matches on HVR1, 2 low resolution matches on HVR2 but no high resolution HVR1+ HVR2 matches and no FGS (full genome sequence) matches.

At FTDNA I'm a member of the project group, "H Subclade Discovery". Their goal is to "Define new subclades of H." In order to be accepted for membership into this project, you must have taken an mtDNA FGS test. As I write this, my kit #38126 is one of the 103 kits listed in the "Unassigned Members" cluster. (http://www.familytreedna.com/public/mtdna_hstar/default.aspx?sectio...

I belong to the mtDNA Haplogroup FGS Project: H11. My kit number is 151816 and I am listed as an unassigned member. I do have a match on both HVR1 & 2 (none in the FGS) who resided in the same area of New York as my ancestress - but no connection as of yet with a paper trail. Likely back many generations.

My results are also on GenBank - accession number GU945760. No exact matches there. Those close are all over the place. Wondering if my trail leads back to Slovakia or some such place. Fun to ponder over the possibilities.

Hello -- I'm a rank newbie who just got her mtDNA results back from the Genographic Project at the National Geographic. I'm H with the SNPs 16093C and 16519C. I'm a bit confused since the former indicates H1f and the latter H2a4; however the latter also is apparently common and tends to pop up a lot, so I'm guessing that the 16093C is the most definitive in terms of placing me in the common H1f subclade. My family is completely Italian to my knowledge, so no surprise there.

Anyhow, I'm still sort of getting my feet wet in this stuff, so I hope to learn a lot.

Hi Janis, your could even be in a sub branch of H4b. I have 9 sequences (branch motif is T10166C) in my data base and 4 of these have the 160893C .
However, you will not really know what sub branch you are in until you have a full sequence. The four that have this 16093C are from a Shlush_2008 paper submitted to Phylotree.
I have eight H1f sequences and they are all from Finland.
There is also 10 sequences in the database that are classified as just H who all share this mutation which I have placed in a group
Pretty hard to say where you are in the H group at this stage though.

I'm going to get the more close-peering test from FamilyTreeDNA when I get a chance and get more information -- I guess I'll find out more when those results come back. It's daunting to realize how much of this is being discovered as we go; articles from a few years back don't even list 16093C!

Hi all,
Im a newbie, I'm in the mtDNA Haplogroup H2a2b1, I have submitted my fasta file to Dr Susan Schafer, lets see what happens.

Gary / Mudary

Accession HM991709 will be release on Aug 14, 2010.

Gary

Hi, I'm a newbie. How about this result, can someone explain? mtDNA haplogroup H, HVR1 differences from CRS: 16093C 16392C 16519C (Family Tree DNA test).

Hi MP, HVR1 don't normally tell us much in my view, 16519C mutation cuts across all Haplogroups and is classed as an ancestral mutation which goes way back up the Haplogroup tree.
16392C seems to be unique to you at present, mitowheel.org does not show any matches in its database.
16093C is rather a hot spot for defining a sub branch in H. What I mean by that is that this mutation is common in all sub branchs of H but H1f have this i as a branch motif along with 4452C, 7309C, 9066G, coding region mutations and 16189C but since you do not have this in your HVR1 then this elimates you from this Plus you also need the H1 branch motif 3010.
H5a2 (200) 5839 16093
H27 11719 16093 16316
Plus I have identified a few new sub branches across the H group and 16093C is a sub branch motif for these. I have given them my own labels until Phylotree update and give them their label
H10b 16093C
H3o 408A 16093C
If you are going for more testing if you want to know what sub branch of H your are then dont waste your time or money just having your HVR2 tested, I recommend you take the full sequence test as this should let you know what sub branch you are in ( sometimes us Hs can go through the whole testing drama and you can still be an H*)
Good luck if you want to go for more testing and keep us posted-I am always curious.

Hi, now we have got more results. HVR2: 263G, 315.1C.

The first result was haplogroup H and HVR1 differences from CRS: 16093C 16392C 16519C (Family Tree DNA test). the FTDA kit nro is N86056.

Peiternella, can you give any enlightening?

Comment by M_P on November 8, 2010 at 11:44pm
Hi, now we have got more results. HVR2: 263G, 315.1C.

The first result was haplogroup H and HVR1 differences from CRS: 16093C 16392C 16519C (Family Tree DNA test). the FTDA kit nro is N86056.

Hi M P. sorry it has taken so long to reply. Your HVR2 results are ancestral mutations again which really dont tell to much. These mutations are shared by many haplogroups all the way back to mtEve. So you will not know what sub branch of H you are to you have a full sequence. Most of us Hs need that full sequence to find out what sub branch we are in.

Haplogroup H1f.  My Mothers Maternal line immigrated from Germany in the 1880's.

Hi, if you are an H 3 and would like to join a new H3 private project group then follow the link
http://www.facebook.com/home.php?sk=group_213733318644557
Cheers

Just did the 23andme... maternal group H1c... I wish I could find out more but have no surce to get paternal DNA.. I feel half lost. ;(

Also my maternal side swears Native American Indian on maternal side but now I dont see where that is? Fathers side I think with some other research I have done is Dannish perhaps.. names of Neilsen, Petersen on maternal side of father.. fathers name Hunter.  My mothers maternal.. being Knapp (German I think) Sombaty and Parkancsky..  Hungarian..

Wow what a journey this has become! 

Good hunting. to all.