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  • Heteroplasmy

    I believe that two of my coding region mutations are heteroplasmies: T7310Y & A11172R

    Explanation: "Like other types of mitochondrial DNA (mtdna) mutations, heteroplasmy is written with the original value, the location of the mutation, and the new(mutated) value. For example, a heteroplasmy at position 73 where the heteroplasmic values are A or G is written as G73R."

    If these mutations are ancestral, hopefully I can determine the geographic location or something else about them.

    These two mutations are the reason I have two 2 step matches, who were perfect matches at the HVR1 & HVR2 levels.

    Best regards, Douglas W. Fisher, Kit #122883

    Paternal: U106+Z18+Z14+Z372+
    Maternal: V19

  • #2
    I understand better now.

    I emailed the V project gurus, and they gave me some good info.

    "Your 2 different mutations are T7310Y & A11172R in your coding region. They are heteroplasmy, which is the presence of different alleles to the same position. R means a purine that can be A or G. Y means a pyrimidine that can be C or T. Probably those mutations are very recent: they have not finished their mutational process. So I think they cannot reveal any interesting information about your maternal ancestor."

    In addition, they sent me a V19 tree, showing my placement in the V19a1 position, all by my lonesome. Maybe someone will match me closer in the near future.

    Best regards, Douglas W. Fisher, Kit #122883

    Paternal:U106+Z18+Z14+Z372+
    Maternal: V19a1

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    • #3
      I have 2 Heteroplasmies also

      I have 2 Heteroplasmies for Haplogroup H10, my paternal grandmothers family from somewhere in Germany. Not much info on Haplogroup H10 either.

      Todd

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      • #4
        Interesting

        Originally posted by tab1968 View Post
        I have 2 Heteroplasmies for Haplogroup H10, my paternal grandmothers family from somewhere in Germany. Not much info on Haplogroup H10 either.

        Todd
        I hope that both of us are able to find out more info in the near future. For now I am looking at family tree info from my matches, and hoping to find links, figure out common ancestors.

        Best regards, Douglas W. Fisher, kit#122883

        Paternal: U106+Z18+Z14+Z372+
        Maternal: V19a1

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        • #5
          Hey! Another heteroplasmy mutation here. i have these two:
          C7280Y​​
          A16240W
          H1 haplogroup.

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          • #6
            Originally posted by Kropej View Post
            Hey! Another heteroplasmy mutation here. i have these two:
            C7280Y​​
            A16240W
            H1 haplogroup.
            Interesting, from what I have been told, a heteroplasmy is a mutation not fully matured so it does not count the same as a fully matured mutation. My closest Mtdna match has one of my heteroplasmies, and our common ancestor lived about 250 years ago, so in Colonial times. If someone has a one step difference with someone, their common ancestor could have lived about 1,500 years ago, so if you only mismatch with a heteroplasmy or two, I guess that is not a bad thing.

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