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Unformatted text preview: u Ala Glu Ala
Asn Leu Ala Tyr Lys Leu Genes encode
the order of
amino acids (1˚
structure) His Leu Val
Glu Pro His
Arg Gly Leu Ala Leu Ala
Gln Pro Leu Gln Gly Ala Gly Gly Leu Glu Ser Gly Cys Pro Ile Pro Ser Gln Thr Lys Cys Arg Cys Leu
Leu Gly Gly
Val Glu . which sets up amino acid interactions . . .
2 CH Phe
CH Cys 3 CH CH CH
3 S 2 . . . that
2 His Lys Cys CH 2 NH
N CH H 2
2 2 CH 2 O CH H3N+ CH
2 Asp Ser Lys His
Asn COO- Changes in a protein’s amino acid sequence can change
protein folding and alter function wild type
amino acid active site mutant
change active site
doesn’t form enzyme is
defective Mutant alleles and mutant phenotypes Mutant allele Mutant phenotype? A product that differs in:
• activity or structure
• time of synthesis
• location Loss of function mutations
LOF: Loss Of Function mutations result in a protein that has
little or no enzymatic activity.
Most mutations associated with a
phenotype are LOF.
Why? Loss of function mutations
Most LOF mutations are...
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This note was uploaded on 10/16/2013 for the course BBIO 360 taught by Professor Marcservetnick during the Fall '12 term at University of Washington.
- Fall '12