What is the normal function of this protein?

  • Go for depth rather than breadth. For example, if you want to write about mitochondrial diseases, instead of listing all the diseases and giving one paragraph of information about each, select one of them and go into detail.
    • Give as much genetics-related information as possible about the disease, such as
    • cause: what genes are implicated (concentrate on one if there is enough info),
    • location and structure of these genes (chromosomal locations, introns, exons)
    • is the disease caused by a mutation?
      • identify the mutation/ most important mutations
      • is it a deletion, duplication, point mutation, etc
      • is it an error in a structural gene, or a regulatory sequence?
      • does it involve a protein?
      • Is it a splicing error?

What is the normal function of this protein?

Where is the normal cellular location of this protein?

How does the mutation change the protein?

Are there any gene therapies? (do NOT describe in detail clinical interventions, such as physical therapy)

  • Is it an epigenetic condition?

Describe the epigenetic change, location, etc.

What is the normal function of this protein?
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