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Function

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About Function

  • Rank
    Protist
  • Birthday 12/27/1996

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  • Location
    Belgium
  • College Major/Degree
    MD
  • Favorite Area of Science
    Anaesthesiology

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  1. So there's this gene, IDH1. It's responsible for the production of the protein IDH1.

    An c.395G>A mutation in IDH1 leads to p.R132H IDH1.

    So if a tumour is IDH1-mutated, can I say IDH1 is mutated? Or is "aberrant" more preferable?

    What do I call "p.R132H" if it is not a mutation?

    1. hypervalent_iodine

      hypervalent_iodine

      I guess it depends on whether or not the mutation in gene sequence leads to a change in the amino acid sequence. In your example, yes, though I believe convention with proteins is to only capitalise the first letter, making it an R132H Idh1 mutant. I may be wrong in that though. Edit: just realised that the capitalisation is species dependant. I work with fungi, where you don't capitalise every letter, but I believe you do with humans. Go figure.  

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