Types of mutations and their impact on protein function Today's ...

More documents

Recommendations

Info

Note: these are all substitutions This one is an insertion 4
Missense mutation: changes an amino acid to another amino acid. This may or may not affect protein function, depending on whether the change is “conservative” or “nonconservative,” <strong>and</strong> what the amino acid actually does. Nonsense mutation: changes an amino acid to a STOP codon, resulting in premature termination <strong>of</strong> translation. “Silent” mutation: does not change an amino acid, but in some cases can still have a phenotypic effect, e.g., by speeding up or slowing down protein synthesis, or by affecting splicing. Frameshift mutation: Deletion or insertion <strong>of</strong> a number <strong>of</strong> bases that is not a multiple <strong>of</strong> 3. Usually introduces premature STOP codons in addition to lots <strong>of</strong> amino acid changes. 5
Page 1 and 2: Today’s lecture: Types</s
Page 3: The triplet nature of</stro
Page 7 and 8: Not all of the mut
Page 9 and 10: Elongation 9
Page 11 and 12: Not all of the mut
Page 13 and 14: Most eukaryotic genes contain intro
Page 15 and 16: Sometimes there are multiple potent
Page 17 and 18: Mutations are also classified by <s
Page 19 and 20: Cystic Fibrosis shows the “expect
Page 21 and 22: Vincent Schiavelli 1948-2005 Marfan
Page 23 and 24: “Gain-of-functio
Page 25: “Gain-of-functio

Types of mutations and their impact on protein function Today's ...

Create successful ePaper yourself

Delete template?

Save as template?