Function

Senior Members
  • Content Count

    919
  • Joined

  • Last visited

Community Reputation

82 Excellent

About Function

  • Rank
    Protist
  • Birthday 12/27/1996

Profile Information

  • Location
    Belgium
  • Interests
    Movies, music (where shall I start ...), neuro-oncology (with special interests in gliomas), neurology and neurophysiology (with special interests in epilepsy and (problems of) consciousness), endocrinology (with special interests in fertility, andrology, and endocrinology of the adrenal cortex)
  • College Major/Degree
    BSc in Medicine
  • Favorite Area of Science
    Medicine: neurology, neurophysiology, endocrinology
  • Occupation
    2nd year graduate student - Master of Medicine

Recent Profile Visitors

22199 profile views

Single Status Update

See all updates by Function

  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.