write a summary full page double space fallow the instruction for a bio lab , try to use simple words
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Genetic Disease Summary Assignment Von Willebrand
The summary is due to the D2L Assignments Box by 11:55 pm on May 2 for ALL sections. (This is the
last day of classes, so it is the last day work for a class can be turned in.)
You may work in your group of 3 or individually, but whatever you decide must be agreed upon IN
CLASS before you leave and you need to let your TA know what you plan to do.
Using the WS you filled out in class + the questions on second page, write a summary explaining how the
amino acid substitution you studied changes the structure/function of the protein and leads to the symptoms
of the disease listed in the case study. Focus on the 1st amino acid substitution (the one
you completed the worksheet and in-class discussion for). The maximum length of
this summary is 1 page, double-spaced, 1 margins, and font size 12. Anything beyond that length will not be
read. (100 pts.)
Write in a logical manner in which each sentence flows into the next
Points to be sure to include in your summary:
o Identity of the protein
o The normal function of the protein
o How the properties of the amino acid in the wild-type protein compare to the properties of
the substituted amino acid in the malfunctioning protein
o How the amino acid change could lead to the proteins structure and/or function being altered
o How the malfunctioning protein leads to the disease symptoms
? These last two bullet points come directly from the questions below, so make sure
you answer those questions.
You may include an answer to this question for 5 bonus points. Label this at the end of your summary as bonus
question. It does not count toward the total length of your summary.
The protein you studied is involved in a complex of proteins that work together to perform a function
(all of the proteins studied have multiple subunits, which work together to perform a function). Could
mutations in any of these proteins lead to your disease as well? Why or why not? EXPLAIN. Ideas to
von WIllebrand factor interacts with Factor VIII and vWF- if vWF could no longer bind Factor VIII,
could that lead to Von WIllebrand Disease? If vWF could no longer bind other vWF, could that lead
to Von Willebrand Disease?
How would these possible changes lead to the disease (if they would still)? If they would not lead to
the disease still, explain why. Consider at least 2 possibilities listed for your disease. Work on the
same disease as you worked on in class, and only that disease. You do not need to complete all of
the diseases, only the one studied in your class.
Questions that will help you explain the link between a malfunctioning protein and the symptoms of the
1. What type/class of protein is involved in your disease? Is it an enzyme, a transporter, an ion channel,
etc? Try to generalize its function if you cant find anything explicit. (Hint: if its name ends in ase, its
2. Protein Interactions:
a. What types of molecules does your protein interact with? If its an enzyme, what does it put
together or take apart? If not an enzyme, what molecules does it interact with? Does your
protein interact with any other proteins? List those as well
b. In general, what are the important factors in a protein being able to interact with the molecule
it does? Why would two proteins or two molecules ever come together in water?
c. How do you think your protein interacts with the molecule it does?
3. What do these molecules/proteins that your protein interacts with do in/for the cell
4. Is your protein influencing any specific cellular process? (i.e. Transcription, translation, metabolism,
5. If your protein binds to some molecule to influence a process, would that process still happen? Explain
why or why not.
6. If your protein were to stop working, what kind of symptoms do you think that would cause?
Good resources: Wikipedia page for your disease (symptoms/pathophysiology sections)
vWD: https://www.ncbi.nlm.nih.gov/books/NBK7014/ Clinical Characteristics sections
Readings and articles posted on the D2L site regarding your disease
Please include an MLA formatted citation at the end of your plan for the
outside sources you use. Work without a citation will receive a 20% grade
Genetic Disease Summary RUBRIC
(sums to 100 points)
(May work as a group of 3 or as individuals)- due to the D2L Assignments Box by 11:55 pm on May 2 for ALL
The maximum length of this summary is 1 page, double-spaced, 1 margins, font size 12. Anything beyond that
length will not be read. (100 pts.)
Information to assist you in this work:
– https://thinkbio.guru/3D_Directory/!Genetic_Diseases.html (If nothing shows up, try
HTML5 under the yellow window)
– various readings posted on D2L under Content -> Lab assignments -> Genetic Disease
Loss of credit if:
Identity of protein (5)
-list identity of protein (2)
-identify its type/class (3)
Normal function of protein (20)
-A non-technical description of the
role the protein normally plays in cells.
Includes the following
-The types of molecules the protein
interacts with (5)
– what these molecules do in/for the
cell, (5) is the protein influencing any
specific cellular process? (i.e.
Transcription, translation, etc.) (5)
-what important factor/properties of
the protein allow it to interact with
the molecules the way it does? (5)
-Unexplained technical terms; not presented in everyday,
-Specific role of the protein not described.
Amino acid change (10)
-includes wild-type and substituted
amino acid name (2)
-properties of both AA briefly stated
-Comparison of the two amino acids
-Needlessly wordy; technical terms not defined (none are
How the amino acid change could lead to
the proteins structure and/or function
being altered (20)
– thoughtful and logical explanation of
how changing from wild-type to
substituted amino acid alters the
structure of protein (20)
-Incomplete logical chain.
-Extensive use of outside resources. This question should be
answered using information provided by direct observation.
How the malfunctioning protein leads to
the disease symptoms and why? (25)
-list disease symptoms (5)
-Explanation of why the absence of
the protein or its misbehavior results
in the genetic disease. (10)
-thoughtfully and thoroughly provide
an explanation for the development of
two of the symptoms listed (10).
-Does not take into account available information;
-Summary clear and written in a
logical manner in which each
sentence flows into the next
-Specific and concise
Organization careless or not in evidence. Presentation
or succinct or concise.
Grammar, spelling & sentence
Group Evaluation (5)
-Use table below
-not completed/submitted with summary
BONUS QUESTION (+5)
(leave blank if all shared)
Overall % of Total Effort
(sum of ALL should = 100)
(Include special effort or failure
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