What is the protein’s normal function?

The following are guidelines for formatting your submission:Put your name and “Biol 305 F21” in the upper right cornerClearly label each journal entry (Ex. AQ#1)Double spaced with 1-inch marginsInclude in-text citations and referencesReview the Turnitin similarity score for your submission. Revise and resubmit your assignment if necessary.
Sources:Be sure to consult your textbook, and the Online Mendelian Inheritance in Man website at www.ncbi.nlm.nih.gov/omim(Links to an external site.)and at least 3 other quality sources – so the minimum is 5 sources.AQ #1: The history of your condition (9/16/21)Go to omim.org(Links to an external site.)and enter your MIM number* to learn the name of your disease/condition (your MIM number will be emailed to you). Once you have identified your condition, do a little background on the history of it. This could include information about when it was first identified, when the gene was located, etc.*MIM number: the number assigned to a trait/gene/functional segment of DNA in the Mendelian Inheritance in Man system.Suggested length: 1-2 paragraphsAQ #2: Locate the gene associated with your condition (9/21/21)Use omim.org(Links to an external site.)to locate the location of the gene that is associated with. Given this information and what you learned previously in lecture, describe the location (in other words, what does the shorthand mean). 2-3 sentencesDo a little research on the chromosome that the gene is on. How many genes does it carry? How many base pairs is it composed of? Any other notable features? 1 paragraphAQ #3: Describe the protein involved (9/28/21)In the last question you identified the location of the gene associated with your genetic condition. For this entry, describe the protein that is encoded by that gene. What is the name of the protein? What is the protein’s normal function? The description of the function could include an explanation of the normal role within the cell as well has the role it plays for the overall individual. (NOTE: focus on the normal function for this entry, not the way the protein is altered and causes the disorder which will come later)Suggested length: 1-2 paragraphsAQ #4: Describe the mutation (10/11/21)Describe the alteration to the gene (i.e. what changes were made to the DNA sequence) that leads to your disorder. In many cases, the disorder may be caused by multiple mutations. If this applies to your condition, describe at least two and stick to ones we’ve covered in class (ex. deletion, substitution, etc.).Explain how the function of the protein related to this gene is altered as a result of the mutation. In other words, what affect of the change to the DNA have on the protein produced.Suggested length: 1-2 paragraphsAQ #5: Signs/Symptoms (10/18/21)Be specific in how this disorder affects the physiology (i.e. phenotype) of the individual. Don’t just provide a list of symptoms – explain the cause of the symptoms as a result of the changes to the gene/protein. There should be a connection between the information in AQ #3 and AQ #4.Suggested length: 1-2 paragraphsAQ #6: Inheritance Pattern (10/28/21)We have recently been discussing the various patterns of inheritance. For this AQ you need to identify the pattern of inheritance associated with your disorder and answer the following questions based on this information. Label the information a-c for this entry.a. What is the inheritance pattern for your disorder? Tip: OMIM has this informationb. Is your disorder more likely to be inherited by one sex or does it affect both sexes equally? Explain.c. If an individual has this disorder, does at least one of their parents also have it? Explain.AQ #8: Statistics (11/9/21)Understanding the frequency a condition appears can be useful information for determining things like the heritability of a trait and calculating the risks within different populations. For this entry, focus on the statistics related to your assigned condition. Some examples of what to include: What is the incidence? What is the prevalence? Is it different for different groups of people? How many people currently have this disorder? Any other interesting or relevant statistics? The availability of information will depend on the disorder – rare disorders will have fewer statistics. Aim to include at least 3.AQ #9: Testing & Management (11/15/21)This entry focuses on the identification and management of your condition. Explain the types of testing that would be done to determine who is affected by or could pass your condition. You should incorporate information that was introduced this week.You should have learned about the effects on the phenotype by completing AQ#5. Discuss how the symptoms are managed or treated. Ex. How are the specific impacts managed to improve the quality of life for the individual? What are the current treatments available? Any treatments under development? Explain.Suggested length: 2 paragraphs