H1 - T16189C! Help !!

hrvclv

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Auvergne, France
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Arvern
Y-DNA haplogroup
R1b-U152-DF103
mtDNA haplogroup
H1bm
Hi everybody. I persuaded some of "my people" to test. My son-in-law came out as H1 - T16189C!
A bit of a riddle to me. All I managed to find was that, apparently, the exclamation mark signals a "back mutation". What the heck is that ?
Is T16189C! an identified subclade of H1 ? Or does it define one ?
Can someone help me out on this ? Thanks in advance to whoever contributes.
 
I think it is connected to the [FONT=&quot]Reconstructed Sapiens Reference Sequence (RSRS). FamilyTreeDNA already provides the results using RSRS , while most scientists still use the Cambridge Reference sequence(CRS). According to RSRS there is a mutation C16189T relative to the reference, which is very common among all haplogroups. However, those with the mutation H1-T16189C are considered in fact a back mutation relative to RSRS as the basic H has the C->T.
You can see the mtDNA haplogroups classification, for example on the Ian Logan site.
http://www.ianlogan.co.uk/sequences_by_group/h1-t16189c_genbank_sequences.htm

[/FONT]
 
@Eastara
Thank you for your helpful post. I'll have one more question, though. Does it mean that H1-T16189C! is to be considered as a subclade of H1, just like H1a, H1b, etc... or is T16189C! simply an "anomaly" which can occur among various subclades of H, and therefore doesn't constitute a category as such ? For ex., can you have H1a-T16189C!, H1b-T16189C!, H2-16189C!, etc... ? I am afraid I am not proficient enough in genetics to sort it all out by myself...
 
@Eastara
Thank you for your helpful post. I'll have one more question, though. Does it mean that H1-T16189C! is to be considered as a subclade of H1, just like H1a, H1b, etc... or is T16189C! simply an "anomaly" which can occur among various subclades of H, and therefore doesn't constitute a category as such ? For ex., can you have H1a-T16189C!, H1b-T16189C!, H2-16189C!, etc... ? I am afraid I am not proficient enough in genetics to sort it all out by myself...

Yes, this should be considered a subbranch of H1, but why they use the back mutation, and not the normal alphanumeric labelling, I am not sure.
The position 16189 is rather unstable, and the back mutation T16189C and also the transition C16189A happen in many other haplogroups.
 
Thank you so much, Eastara. Contribution much appreciated.
 

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