The 12th Invest in ME Conference, Part 1
OverTheHills presents the first article in a series of three about the recent 12th Invest In ME international Conference (IIMEC12) in London.
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ETFB gene

Discussion in 'Genetic Testing and SNPs' started by aquariusgirl, Feb 25, 2018.

  1. aquariusgirl

    aquariusgirl Senior Member

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    F5A21A56-1A96-4110-A630-8EFAD4429C6A.jpeg View attachment 26231 View attachment 26232 View attachment 26231 View attachment 26232

    I just installed a gene report on Livewello that seems to suggest I have some genetic weaknesses with the electron transport flavoprotein beta polypeptide gene.

    A quick google reveals related conditions are (see below). Also, this gene has come up in autism research & I read that GAII has been associated with fatty infiltraition of the liver. And I have fatty liver.


    Has this come up before?
     
    Last edited: Feb 25, 2018
  2. pattismith

    pattismith Senior Member

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    if you look on ENLIS, you will see that:

    rs3786625 is on INTRON (no impact on protein coding) and the minor allele (A) frequency is 36% so rather common.
    I am too homozygous for this one.

    rs12985380 is also on INTRON and the minor allele (A) is also common, and I am too homozygous for this one.

    I went on my raw datas via 23andme and did'nt find any f the other snp in your list, so I can't say if any is relevant.

    Did you run the ETFB gene in your ENLIS?
     
  3. aquariusgirl

    aquariusgirl Senior Member

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    No. how would i do this?
     
  4. aquariusgirl

    aquariusgirl Senior Member

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    does anyone know if it's rare to have 8 DNA variations on one gene?
     
  5. pattismith

    pattismith Senior Member

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    Yes it can happen, most variations will not have any clinical significance.
    a single gene contains hundreds or thousands snp, so you are likely to have many variations;

    The more 23andme will give you snp in a gene, the more you will find variations.

    So you have to target and screen what you are looking for, and Enlis is a powerful tool to do it.

    Here the way you can screen the ETFB gene via Enlis.

    First you will open the window "gene category or gene list" like below you choose "gene symbol" and write the name of the gene you are looking for, and then you click on the "go" button:

    upload_2018-2-27_7-14-58.png

    You can see my variations are all on INTRON and with a allele frequency above 30 %

    So they are unlikely to cause any problem.

    If you want a better screening, you will open two other windows:
    "allele frequency" (choose 1 or 2% for example)
    "protein impact" (you can choose everything in this window)

    Then you click on "go" button, and you will see nothing relevant is showing up anymore:

    upload_2018-2-27_7-19-39.png
     
  6. aquariusgirl

    aquariusgirl Senior Member

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    So can we disregard everything that is not protein coding?

    My mom had 28 rare DNA variations in GSTM2...but I think they were all on an intron. Junk DNA?

    Yeah. I did an Enlis search on GTSM2 gene and nothing popped up...so I guess I disregard it.
     
    Last edited: Feb 27, 2018

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