Ala arg gln arg asn leu ala tyr lys leu genes encode

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Unformatted text preview: u Ala Glu Ala Arg Gln Arg Asn Leu Ala Tyr Lys Leu Genes encode the order of amino acids (1˚ structure) His Leu Val Glu Pro His Gln Asn Val Phe H3N+ Val Cys Gly Thr Tyr Phe Phe Glu 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 Ala Gly Val Glu Gly Leu Gly Gly Ile Gln Val Glu . which sets up amino acid interactions . . . Cys 2 CH Phe Cys CH Cys 3 CH CH CH 3 S 2 . . . that dictate protein conformation (3˚ structure) Val S CH 2 His Lys Cys CH 2 NH CH 2 N CH H 2 2 2 CH 2 O CH H3N+ CH O OC CH 2 Asp Ser Lys His His Tyr Gln Leu Glu Asn Tyr Cys Asn COO- Changes in a protein’s amino acid sequence can change protein folding and alter function wild type change this amino acid active site mutant shape 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 • amount • 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.

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