Protein on Normal Red Blood Cells Instructions: Transcribe the DNA sequence shown, then translate using codon map DNA: TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC Transcribed mRNA: AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG Translated protein: Start Val His Leu Glu Glu Glu His Val Glu His Stop Protein on Normal Red Blood Cells

Protein on Red Blood Cells Changed Causing Sickle Cell Anemia Instructions: Thymine in 2nd base position of 5th codon mutates to an Adenine DNA: TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC CAC Transcribed mRNA: AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG GUG Translated protein: Start Val His Leu Glu Glu Glu His Val Glu His Stop Val Protein on Red Blood Cells Changed Causing Sickle Cell Anemia Missence Mutation: change in 1 base resulting in change in codon which results in change of amino acid; reading frame unaffected causes change in protein formed may be due to replication error or transcription error

TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC CAG Instructions: Adenine in 3rd base position of 2nd codon mutates to a Guanine DNA: TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC CAG Transcribed mRNA: AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG GUC Translated protein: Start Val His Leu Glu Glu Glu His Val Glu His Stop Val Silent Point Mutation: change in 1 base resulting in change in codon but NO change of amino acid (Val Val) causes NO change in protein formed may be due to replication error or transcription error Protein on Normal Red Blood Cells – no change

AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG Instructions: Delete the Cytosine from the 1st base position of codon #10; redistribute codon reading frames DNA: TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC Transcribed mRNA: AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG protein: Translated Start Val His Leu Glu Glu Glu His Val Glu His Stop Asn Thr No Stop Frame Shift Mutation -- Deletion Deletion of 1 base shifts the codons resulting in a change to the protein reading frames causes change in protein formed or results in no protein being formed; may be functional, partially functional or nonfunctional may be due to replication error or transcription error

AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG Instructions: Insert a Guanine after 3rd base of codon #10; redistribute codon reading frames DNA: TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC G Transcribed mRNA: AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG C protein: Translated Start Val His Leu Glu Glu Glu His Val Glu His Stop Pro Leu No Stop Frame Shift Mutation -- Insertion Insertion of 1 base shifts the codons resulting in a change to the protein reading frames causes change in protein formed or results in no protein being formed; may be functional, partially functional or nonfunctional may be due to replication error or transcription error

AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG Instructions: Delete the Cytosine from the 1st base position of codon #9; redistribute codon reading frames DNA: TAC CAA GTA GAC CTC CTT CTC GTG CAT CTT GTG ATC Transcribed mRNA: AUG GUU CAU CUG GAG GAA GAG CAC GUA GAA CAC UAG Translated protein: Start Val His Leu Glu Glu Glu His Val Glu His Stop Stop NO RBCs formed – fatal mutation may result Nonsense Mutation: Frameshift or Missence mutation that results a STOP codon being inserted too early in the reading frame. Results in shorter, unfinished protein that is usually nonfunctional. may be due to replication error or transcription error