Analyze the mutation
Open your materials, follow the steps, then turn in your work.
Interpret your mutation model with a CER and evaluate the model's limitations.
1. Open your materials
2. Start the work
Compare the original and mutated amino acid sequences.
Show all 5 required steps
- Compare the original and mutated amino acid sequences.
- Write a CER: how does this mutation affect the resulting protein?
- Relate the protein change to a possible diagnosis.
- Identify two variables that determine a mutation's severity.
- State one limitation of a paper or virtual model of translation.
Lost your place? Lost your place? You should have (1) the original and mutated sequences compared and (2) a CER on the protein effect. Finish those, tie the change to a possible diagnosis, then list two severity variables and one model limitation.
Check your work before submitting
- I can interpret how a mutation changes a protein.
- I can connect a protein change to a diagnosis.
3. Turn in your work
DueCheck Schoology- Hand in
- CER arguing how the point mutation affects the resulting protein, using the Wednesday sequence comparison as evidence and connecting the protein change to a possible diagnosis in the reasoning.
How to submit and name your file
Upload your CER to the tracker or hand in the written copy by end of class.
In Schoology, open your course and the assignment for this lesson. Attach your file, select Submit, and check that it appears in the submission.
PDF upload helpYou get two school days for every day you were absent, so this deadline moves with you.
Find this lesson's Schoology assignments
These are existing assignments for your section. Follow the directions in the assignment you are working on; this list does not add new work. Check Schoology for each deadline.
Link will not open? Open Schoology, choose your course and section, and find the title shown above.
How this lesson connects
Keep using what you learned last class: Modeling transcription and translation by hand makes each base pairing visible, so you can pinpoint exactly where one changed base rewrites the protein. Today: A mutation's clinical severity is set by where it falls and how it changes the amino acid's chemistry, so identical-size changes can produce anything from no effect to a broken protein.
Check you have the right sheet: the top of it prints today's portal day, Analyze the mutation. The PLTW activity itself is in myPLTW and is not posted here.
Optional: listen or watch a unit review▸
Need help? Warm-up, timing, and directions▸
💡 Big idea: A 's clinical severity is set by where it falls and how it changes the amino acid's chemistry, so identical-size changes can produce anything from no effect to a broken .
- 0:00Return Wednesday notebook entries; compare original and mutated amino acid sequences as a class (anonymized)
- 0:10Classify each group's (silent, , ) and discuss severity expectations
- 0:22Research: find one real genetic disease caused by a or similar to yours (NCBI Genes and Disease)
- 0:38CER writing: claim about how the affects the , evidence from sequence comparison, reasoning from amino acid property change and disease connection
- 0:58List two variables that determine severity; state one limitation of a paper model
- 1:10Pair-share CERs; preview Friday final submission
- • Yesterday you introduced a and got a new amino acid sequence. Today the question is: so what? Does the new sequence produce a that still works, works differently, or does not work at all?
- • The answer depends on two things: which amino acid changed, and where in the that amino acid does its job. An amino acid buried deep in the core of a protein and one sitting in the active site are not equally important.
- • You will write a CER today that connects your to a possible diagnosis. This is the payoff of the whole central dogma unit: a change in DNA, traced all the way through RNA and , producing a disease.
- • We will also be honest about what the model cannot show. Paper models are 2D. Real proteins fold into complex 3D shapes. The model is useful but limited.
- • Two variables that determine severity are the position of the changed amino acid in the (active site vs. structural region) and whether the new amino acid has different chemical properties (polar vs. nonpolar, charged vs. uncharged).
- • A introduces a premature stop codon, producing a truncated (shortened) that is usually nonfunctional; this often has severe clinical consequences.
- • A paper or virtual model of cannot represent the three-dimensional folding of the actual , which means the model can show the amino acid sequence but not the functional impact of that sequence change.
PLTW connection and today's work
In myPLTW, go back to Activity 2.2.2 A Protein Problem in Lesson 2.2 Decoding a Diagnosis and finish it.
Today's stopping point: You modeled the mutation Wednesday. By the end of today your CER and the mutation severity analysis should both be done.
PLTW activity titles identify the course connection. If your account will not open, use the posted materials for today and tell Mr. Mendoza. Do not mark an online activity complete unless you completed it.
Use the turn-in directions at the top of this page. Do not create a second submission unless your teacher asks for one.
Show another explanation or a smaller first step
Need help? Choose a starting point
Lesson resources: reading, slides, and vocabulary▸
The deck carries the prior idea forward, lets you inspect an analogy, maps the rule to biology, and ends with the same evidence decision and exit ticket used on this page.
Generated from this lesson's canonical data with a red-team citation check.
Modeling and by hand makes each base pairing visible, so you can pinpoint exactly where one changed base rewrites the .
A 's clinical severity is set by where it falls and how it changes the amino acid's chemistry, so identical-size changes can produce anything from no effect to a broken .
A library keeps a master plan protected while working copies guide production at different stations.
- Why protect the master copy?
- What information moves?
- Where can an error change the final product?
Stored information can be copied, read, and converted into a functional product.
Genes are regulated biological sequences, not conscious instructions, and one gene rarely determines a whole trait alone.
- • Master plan maps to DNA.
- • Working copy maps to RNA.
- • Production output maps to or a regulated cell function.
Driving question: Looking at your own before-and-after amino acid sequences, how severe is your , and what evidence in the tells you so?
What you already know: Modeling and by hand makes each base pairing visible, so you can pinpoint exactly where one changed base rewrites the .
New idea: A 's clinical severity is set by where it falls and how it changes the amino acid's chemistry, so identical-size changes can produce anything from no effect to a broken .
Visual or model: F1. F1. A lesson illustration or teaching diagram for Analyze the mutation. Use it with E1-E3; it is a model or context image, not experimental or patient data. What to notice: Trace the labeled observation or evidence sequence before choosing an explanation.
- Observe or measure the relevant feature in analyze the .
- Organize the observation with a stable evidence ID.
- Apply this rule: Stored information can be copied, read, and converted into a functional product.
- Choose the option the evidence supports and state the limit of the conclusion.
Real biomedical example: Looking at your own before-and-after amino acid sequences, how severe is your , and what evidence in the tells you so?
What the evidence supports: E1-E3 and F1 support the daily take-home when the response meets the stated success criteria.
What it cannot prove: The package does not support claims beyond this lesson's or any real patient diagnosis.
- • DNA: The molecule that stores genetic instructions in a twisted double helix, with paired bases that spell out the code for building an organism.
- • : A tightly coiled package of DNA wrapped around proteins that carries genes; humans normally have 46 of them, arranged in 23 pairs.
- • gene: A stretch of DNA that codes for a product (usually a ) and carries an instruction for the cell.
- • : One of the alternative versions of a gene found at the same spot on a , like the A, B, and O versions of the blood-group gene.
- • : A folded chain of amino acids that a gene's instructions are used to build, serving as the cell's machines and structural building blocks.
- • : The first step of making a : copying a DNA gene into messenger RNA.
- • : The second step of making a : the ribosome reads the mRNA and builds a chain of amino acids.
- • : A change in the ; some change a enough to cause disease, many do not.
Use it now: Choose one decision option. Cite E1 and E3, then explain how the rule connects the evidence to your choice.
Go further, optional: The source links below are optional enrichment. Every fact required for today's local evidence decision appears in this lesson package.
Genetic evidence can support an inheritance, , sequence, or expression explanation, but penetrance, regulation, environment, family structure, and test uncertainty can limit the conclusion.
Limit: A classroom , , pedigree, or molecular model does not establish a real person's diagnosis, prognosis, identity, or reproductive outcome.
Stored information can be copied, read, and converted into a functional product.
Limit: Genes are regulated biological sequences, not conscious instructions, and one gene rarely determines a whole trait alone.
You can interpret how a changes a .
Limit: E3 defines the classroom product or success criterion. It is not independent scientific evidence and cannot justify a clinical or causal claim.
PLTW-PBT-2026-10-28 · Simulated classroom evidence scenario
Your role: biomedical investigator
Decision: Your team must decide what the evidence from analyze the supports before submitting the claim-evidence-reasoning response named on today's page.
- • Rank your as severe, because every mutation harms the and a bigger change means a worse disease.
- • Hold the severity call until we learn whether people carrying this same change actually developed symptoms, since some never do.
- • Judge severity by where the change lands and how the amino acid's chemistry shifts, not by the change's size.
Response: State one choice, cite at least two evidence IDs, explain the rule that connects them, and add one limitation. Submit it as the claim-evidence-reasoning response.
Claim ceiling: Today's evidence supports a classroom claim about analyze the . It cannot prove causation, diagnose a real patient, or justify action outside this room.
Reason for review: Your team must decide what the evidence from analyze the supports before submitting the claim-evidence-reasoning response named on today's page.
Context: A 's harm depends on where it lands and what it changes, so location and chemistry, not the mere fact of a mutation, decide how sick a person gets.
- • T1: Compare the original and mutated amino acid sequences.
- • T2: Write a CER: how does this affect the resulting ?
- • T3: Relate the change to a possible diagnosis.
- • T4: Identify two variables that determine a 's severity.
- • T5: State one limitation of a paper or virtual model of .
- • E1: Genetic evidence can support an inheritance, , sequence, or expression explanation, but penetrance, regulation, environment, family structure, and test uncertainty can limit the conclusion.
- • E2: Stored information can be copied, read, and converted into a functional product.
- • E3: You can interpret how a changes a .
Measurements: No patient measurement is supplied unless it appears explicitly in E1-E3 or F1. Do not invent a value.
Figure finding: Teaching diagram for Analyze the . Trace the labeled observation or evidence sequence before choosing an explanation. This is a teaching model, not patient or experimental data.
Uncertainty: This is a composite classroom scenario. Missing history, measurements, or confirmation tests remain unknown and limit the conclusion.
Students often think Students often assume every is bad, and a bigger-looking change must be a worse disease.. The trap: The trap is thinking all mutations harm equally. A silent can change nothing, while a mutation can be catastrophic. Severity comes from position (active site vs. structural region) and chemistry (polar vs. nonpolar), not from the fact that a base changed.
Claim: The change shown in the karyotype model is a whole-chromosome error that could seriously affect development.\n\nEvidence: In the model, chromosome 21 appears three times instead of the normal pair, so the cell carries 47 chromosomes rather than 46. Every other chromosome pair looks typical, and no single band or gene was rewritten.\n\nReasoning: The severity of a genetic change depends on how much genetic material is added or lost and how many genes that touches. An extra copy of an entire chromosome means hundreds of genes are present in three doses instead of two, which raises how much of each protein the cell makes. Because so many genes are affected at once, this whole-chromosome error tends to have broad, body-wide effects rather than one narrow change, and a trisomy of chromosome 21 is consistent with a diagnosis of Down syndrome. This differs from a change that swaps or deletes a single base, which alters at most one gene. A limitation is that a karyotype shows chromosome number and shape but not how active each gene is, so the model can suggest that an effect is likely but cannot show exactly which traits will appear or how strongly.
This model shows the level of evidence and organization needed to complete: A claim-evidence-reasoning paragraph interpreting a modeled chromosomal change (a karyotype), citing the chromosome count as evidence and connecting the change to a possible diagnosis, with a stated limitation. This is a parallel model, not an answer to today's own point-mutation prompt.
- Write one defensible claim.
- Choose specific evidence that supports the claim.
- Explain the scientific rule that connects the evidence to the claim.
Keep the structure. Replace the question, facts, measurements, and evidence. Then recheck units, vocabulary, and whether the conclusion goes beyond the evidence.
Also due today: Upload the CER to the tracker or hand in the written copy by end of class.
- CER:
- Claim, Evidence, Reasoning: make a claim, back it with evidence, explain your reasoning.
- SOP:
- Standard Operating Procedure, the exact steps to follow (especially in a lab).
- Tracker:
- Your PLTW progress log where you record completed evidence.
- myPLTW:
- The PLTW course site where you do the online activities. Find it in Clever with your Microsoft sign-in, right next to Schoology.
Tap the speaker to hear a term. Add two of these to your notebook glossary with a definition and an example in your own words.
Pick just 2 or 3 words from today and make them yours: write what each one means in your own words, name the context clue or evidence that helped, then give one example from what you actually did in Analyze the mutation. Try your own words first; the glossary is there if you get stuck. This is voluntary and counts as extra credit, so keep it short.
Saved on this device. Show Mr. Mendoza or add these to your notebook glossary to claim the extra credit.
Hand-picked readings and interactives for this lesson, from authoritative open organizations and PLTW's own public course outline.
Practice: try a question, then check your answer▸
Claim ceiling for this check: Today's evidence supports a classroom claim about analyze the . It cannot prove causation, diagnose a real patient, or justify action outside this room.
A point mutation changes a codon from GAA to UAA partway through a gene. What kind of mutation is this, and why would it likely be severe?
Write an answer and pick a confidence to unlock the key.
Fast retrieval with instant answers, not the commit-then-reveal check above. Try each from memory first: write what you remember about the earlier units, then check yourself here.
Missed class or ready for more?▸
Run this before you touch the bench. It is built from the real lab procedure, so the decisions you make here are the ones you will make with the equipment in your hands.
What today's skills lead to. These are real health-science careers this course builds toward. Tap one to see, on the US Department of Labor's O*NET site, what the job actually involves, what it pays, and how fast it is growing.
Today is individual work you can do from home: complete the same target above, then submit your CER.
Go to Schoology to turn this in. Submit one PDF. Put your first and last name in the document header. Name the file: FirstName LastName - Assignment Title - YYYY-MM-DD.pdf. If you cannot get in, see Mr. Mendoza. Do not skip the work.
Class still runs. Complete the online activity above (it's self-guided). Need the concept taught without a teacher? Use this authoritative explainer:
Learn.Genetics (University of Utah): DNA to protein- CompleteEvery required part of the artifact is present, nothing left blank.
- AccurateThe science and the data are correct and match the evidence.
- Scientific reasoningYou explain your claim with evidence and reasoning (CER), not just an answer.
- Professional communicationClear, organized, labeled, and written the way a clinician or scientist would.
- SubmittedGo to Schoology to turn this in. Submit one PDF. Put your first and last name in the document header. Name the file: FirstName LastName - Assignment Title - YYYY-MM-DD.pdf. If you cannot get in, see Mr. Mendoza. Do not skip the work.
This week
My Progress dashboard