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mtDNA Mutations Guide

Note: Your listed RSRS and rCRS values are based on which mtDNA test(s) you have taken. For example, if you have only taken the mtDNA HVR1 test, only HVR1 results are displayed. 

Understanding Your RSRS Values 

In the Your Results section, the RSRS Values tab displays the differences between your mtDNA results and the Reconstructed Sapiens Reference Sequence (RSRS). The RSRS is based on the deepest common maternal ancestor to all people alive today as well as several ancient humanoids. A comparison of your sequence to this reference reveals the path between you and our shared maternal ancestor.

Your results in comparison to the RSRS are displayed as follows: 

  • Extra Mutations - Mutations that are present in your mtDNA that are not typically seen in your haplogroup. These mutations might be shared with other testers. 
  • Missing Mutations - Mutations that are typically seen in your haplogroup that are not present in your DNA. This can indicate an ancestral lineage or a back mutation. A back mutation is when a  value changes back to its original value.
  • HVR1 Differences from RSRS - Mutations in your mtDNA Hypervariable Region 1 (positions 16001-16569) compared to the RSRS (Mitochondrial Eve). 

  • HVR2 Differences from RSRS - Mutations in your mtDNA Hypervariable Region 2 (positions 1 to 574) compared to the RSRS (Mitochondrial Eve). 

  • Coding Region Differences from RSRS - Mutations in your mtDNA Coding Region (positions 575 to 16000) compared to the RSRS (Mitochondrial Eve).

Understanding Your rCRS Values 

In the Your Results section, the rCRS Values tab displays the differences between your results and the historic revised Cambridge Reference Sequence (rCRS). The values displayed here are for historic reference only.

At the top of the rCRS Values tab, your results are displayed as follows:

  • HVR1 Differences from rCRS - Mutations in your mtDNA Hypervariable Region 1 (positions 16001-16569) compared to the rCRS.
  • HVR2 Differences from rCRS - Mutations in your mtDNA Hypervariable Region 2 (positions 1 to 574) compared to the rCRS.
  • Coding Regions Differences from rCRS - Mutations in your mtDNA Coding Region (positions 575 to 16000) compared to the rCRS. 

In the Revised Cambridge Reference Sequence section, your results are displayed as follows: 

  • HVR1 Reference Sequence
    • Position - The position (16001-16569) within the mtDNA Hypervariable Region 1.
    • CRS - The value at this position in the rCRS.
    • Your Result - Your value at this position if it differs from the rCRS.
  • HVR2 Reference Sequence
    • Position - The position (16001-16569) within the mtDNA Hypervariable Region 2.
    • CRS - The value at this position in the rCRS.
    • Your Result - Your value at this position if it differs from the rCRS.
  • CR Reference Sequence
    • Position - The position (575 to 16000) within the mtDNA Coding Region.
    • CRS - The value at this position in the rCRS.
    • Your Result - Your value at this position if it differs from the rCRS.

Downloading Your FASTA File 

You can download your mtDNA results to a FASTA file. A FASTA file is a text file commonly used by population geneticists.

Please read before you download: FamilyTreeDNA is committed to protecting the privacy of our customers. By downloading any raw data or reports, you hereby indicate that you are the owner of that data or have permission to download the data, and you further indicate your understanding that FamilyTreeDNA cannot in any way guarantee the security or privacy of your downloaded data. Furthermore, you understand that by uploading your raw data to a third-party application and linking it to your name, FamilyTreeDNA kit number, email address, or any other identifying information, the security of your raw data and record is further put at risk and may lead to the violation of FamilyTreeDNA Privacy Policy. By downloading your raw data, you assume the liability for any breach of privacy and release FamilyTreeDNA from any privacy violation that results either directly or indirectly from the downloaded raw data and/or upload to a third-party application.

To download your FASTA file: 

In the lower-right corner of the mtDNA Mutations page, click the FASTA button.

 

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