Function
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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?
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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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