NAME __________________________________ Mutations
Worksheet
Deletion, Insertion & Substitution
There are several types of mutation:
DELETION (a base is lost/deleted)
INSERTION (an extra base is added/inserted)
--- Deletion & insertion may cause what’s called a FRAMESHIFT mutation, meaning the reading
“frame" changes, thus changing the amino acid sequence from this point forward
SUBSTITUTION (one base is substituted for another)
--- If a substitution changes the amino acid, it’s called a MISSENSE mutation
--- If a substitution does not change the amino acid, it’s called a SILENT mutation
--- If a substitution changes the amino acid to a “stop,” it’s called a NONSENSE mutation
Complete the boxes below. Classify each as Deletion, Insertion or Substitution AND as either
frameshift, missense, silent or nonsense (Hint: Deletion & Insertion will always be frameshift).
Original DNA Sequence: T A C A C C T T G G C G A C G A C T…
mRNA Sequence: AUG UGG AAC CGC UCG UGA
Amino Acid Sequence: MET TRP ASN ARG LEU STOP
Mutated DNA Sequence #1 T A C A T C T T G G C G A C G A C T…
What’s the mRNA sequence? AUG UAG AAC CGC UGC UGT (Circle the change)
amino acid sequence? MET Stop
Will there likely be effects? maybe What type of mutation is this?
___Nonsense_____________________________
Mutated DNA Sequence #2 T A C G A C C T T G G C G A C G A C T…
What’s the mRNA sequence? AUG CUG GAA CGC CUG CUGT (Circle the change)
amino acid sequence? MET LEU GLU ARG LEU
Will there likely be effects? What type of mutation is this?
__FRAMESHIFT______________________________
Mutated DNA Sequence #3 T A C A C C T T A G C G A C G A C T…
What’s the mRNA sequence? AUG UGG AAU CGC UGC UGA (Circle the change)
amino acid sequence? MET TRP ASN ARG CYS STOP
Will there likely be effects? Yea What type of mutation is this?
_________MISSENSE_______________________
Mutated DNA Sequence #4 T A C A C C T T G G C G A C T A C T…
What’s the mRNA sequence? AUG UGG AAC CGC UGA UGA (Circle the change)
amino acid sequence? MET TRP ASN ARG STOP
Will there likely be effects? perchance What type of mutation is this?
____________Nonsence_____________________
Mutated DNA Sequence #5 T A C A C C T T G G G A C G A C T…
What’s the mRNA sequence? ATG UGG AAC CCU GCU GA (Circle the change)
What will be the amino acid sequence?
Will there likely be effects? Yea proably What type of mutation is this?
_____Frameshift____________________________
1. Which type of mutation is responsible for new variations of a trait? Substitution
2. Which type of mutation does not result in an abnormal amino acid sequence? Missense substitution
3. Which type of mutation stops the translation of an mRNA molecule?
___________Deletion___________________________
Sickle Cell Anemia
Sickle cell anemia is the result of a type of mutation in the gene that codes for part of the hemoglobin
molecule. Hemoglobin carries oxygen in your red bloods cells. The mutation causes these red blood
cells to become stiff & sickle-shaped when they release their oxygen. The sickled cells tend to get stuck in
blood vessels, causing pain and increased risk of stroke, blindness, damage to the heart & lungs, and other
conditions.
--- Analyze the DNA strands below to determine what amino acid is changed AND what type of mutation
occurred
Normal hemoglobin DNA CAC GTA GAC TGA GGA CTC…
Normal hemoglobin mRNA GUG CAU CUG ACU CCU GAG
Normal hemoglobin AA sequence ALA HIS LEU THR PRO GLU
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Sickle cell hemoglobin DNA CAC GTA GAC TGA GGA CAC…
Sickle cell hemoglobin mRNA GUG CAU CUG ACU CCU GUG
Sickle cell hemoglobin AA sequence VAL HIS LEU THR PRO VAL
4. What type of mutation is this? Explain why.
This is a missense substitution mutation, it changed amino acids but its still comprehensible.
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