Biochem 70 Flashcards
What is known as a transition mutation?
Purine to purine
-or-
Pyrimadine to pyrimadine
What is known as a transversion mutation?
Purine to Pyrimadine or vice versa
What is a silent mutation?
Nucleotide substitution but codes for same amino acid
Where do silent muations often occur?
3rd position of codon (tRNA wobble)
What is a missense mutation?
Nucleotide substitution resulting in a changed amino acid
When is a missense mutation called conservative?
If the resulting amino acid is structurally similar to the intended.
(Conservative mutations do not alter protein length and may or may not alter secondary structure, protein stability, and protein function. UW 2027)
What disease processes display missense mutations?
Sickle Cell Hemoglobin C (UW 1470)
What is a frameshift mutation?
Deletion or insertion of number or nucelotides not divisible by 3, often creating a premature stop codon or dramatically changing the protein structure.
Which diseases result due to frameshift mutations? (3)
1) Duchenne Muscular Dystrophy
2) Cystic Fibrosis
3) Alpha-thalassemia
What is a nonsense mutation?
Nucleotide substitution resulting in an early stop codon
