The protein mutation identified in the 25 von Willebrand disease patients is a?
The protein mutation identified in the 25 von Willebrand disease patients is a?
Homework Answers
- Platelets prevent external or internal injuries to blood vessels, maintaining homeostasis in 3 phases.
- In first phase vasoconstriction occur causing spasms.
- Platelet plug formation: It is second stage of homeostasis.
- When blood vessels get injured, platelets adhere to the exposed collagen and von Willebrand factor (vWF).
- They function in clot formation in phase 3.
- Mutation in vWF leads to bleeding disorder.
- Mutation detected in producing non-functional vWF has been observed to convert CGA to UGA or a stop codon.
- Thus, this indicates nonsense mutation.
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The protein mutation
identified in the 25 von Willebrand disease patients is a?
Von Gierke disease is frequently the result of a defect in glucose 6-phosphatase. Suggest another mutation...
Von Gierke disease is frequently the result of a defect in glucose 6-phosphatase. Suggest another mutation in glycogen metabolism that could cause symptoms like those of von Gierke disease. Explain why the two mutants would likely share symptom profiles.
A mutation in the gene for a particular protein gives rise to the disease osteogenesis imperfecta....
A mutation in the gene for a particular protein gives rise to the disease osteogenesis imperfecta. Answer (and explain) the following five questions in one sentence each. What is the name of the protein? What is the mutation in this protein? Describe the structure of this protein. Why does this mutation disrupt the structure of the protein? Will taking extra Vitamin C help cure osteogeneis imperfect? Why or why not?
(5 pts) Some of the patients who are not producing the protein have a mutation in...
(5 pts) Some of the patients who are not producing the protein have a mutation in the gene that results in a premature STOP codon and a truncated protein. If the mutation that occurred was 3’ – ATG – 5’ → 3’ – ATT – 5’, what amino acid occurs at this position in the full- length protein? Methionine Tyrosine Isoleucine Cysteine Impossible to tell without more information
please help 6. How can a missense mutation-such as in sickle cell disease-result in a protein...
please help
6. How can a missense mutation-such as in sickle cell disease-result in a protein that has an abnormal structure? Some of these mutations are lethal or cause serious disease, such as cystic fibrosis and sickle cell disease. Many of these point mutations that cause genetic disorders occur as a result of errors in DNA replication or crossing over. 7. What will be the consequence if a single base is deleted from the coding region of a gene?
You've identified a gene likely involved in a human disease. You BLAST the predicted protein sequence...
You've identified a gene likely involved in a human disease. You BLAST the predicted protein sequence for the gene against the database of known protein sequences and see that a domain of your unknown protein is similar to the nuclease domain of a RISC complex protein. Therefore... Select one: a. The unknown protein is likely a component of the RISC complex b. The unknown protein is likely to be a restriction endonuclease c. The unknown protein is likely to be...
Patients with the syndrome pseudohypoparathyroidism have an inactivating mutation (R228C) of one allele of the Gαs...
Patients with the syndrome pseudohypoparathyroidism have an inactivating mutation (R228C) of one allele of the Gαs isoform of the heterotrimeric G protein. On the other hand, gain-of-function point mutation R201C is the most common cancer-causing mutation found in heterotrimeric G proteins. Interestingly, both mutations alter the role of GTP in G protein function. How could these two genetic changes result in such dramatic changes in protein function?
A ________ mutation results in no change in the protein product. mutation results in no change...
A ________ mutation results in no change in the protein
product.
mutation results in no change in the protein product O O O A silent B. nonsense C. missense D. non functional .
In humans, Sickle Cell Disease is caused by a mutation in the gene encoding the beta...
In humans, Sickle Cell Disease is caused by a mutation in the gene encoding the beta subunit (Hbb) of hemoglobin, the oxygen transporting protein in the blood. The most common mutation is E6V (Glutamate6-to-Valine). If you were asked to design gene editing guide that will correct the mutation by inserting a codon for phenylalanine, what codon would most likely result in the greatest level of expression of the corrected Hbb? Briefly state why the level is likely to be highest...
What is the mutation that causes sickle cell disease? Is it a missense or nonsense mutation?...
What is the mutation that causes sickle cell disease? Is it a missense or nonsense mutation? Is it a transition or a transversion? What is the inheritance pattern of the disease? What population has a high number of heterozygotes?
A single point mutation in a gene results in a nonfunctional protein. Individuals heterozygous for this...
A single point mutation in a gene results in a nonfunctional
protein. Individuals heterozygous for this mutation were identified
using a Southern blot. Which pair of wild-type (WT) and mutant
alleles most likely contains the mutation? Why is " A" the correct
Answer. Can you please explain. Thank you! Step by step.
WT Mutant 5-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTCGATGCTTAGGCATCT-3' WT Mutant 5'-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTOGAAGCTTAGGCATAT-3' WT Mutant 5-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTTGAAGCTTAGGCATCT-3' WT Mutant 5'-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTCCAAGCTTAGGCATCT-3'
please help
6. How can a missense mutation-such as in sickle cell disease-result in a protein that has an abnormal structure? Some of these mutations are lethal or cause serious disease, such as cystic fibrosis and sickle cell disease. Many of these point mutations that cause genetic disorders occur as a result of errors in DNA replication or crossing over. 7. What will be the consequence if a single base is deleted from the coding region of a gene?
You've identified a gene likely involved in a human disease. You BLAST the predicted protein sequence for the gene against the database of known protein sequences and see that a domain of your unknown protein is similar to the nuclease domain of a RISC complex protein. Therefore... Select one: a. The unknown protein is likely a component of the RISC complex b. The unknown protein is likely to be a restriction endonuclease c. The unknown protein is likely to be...
A ________ mutation results in no change in the protein
product.
mutation results in no change in the protein product O O O A silent B. nonsense C. missense D. non functional .
A single point mutation in a gene results in a nonfunctional
protein. Individuals heterozygous for this mutation were identified
using a Southern blot. Which pair of wild-type (WT) and mutant
alleles most likely contains the mutation? Why is " A" the correct
Answer. Can you please explain. Thank you! Step by step.
WT Mutant 5-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTCGATGCTTAGGCATCT-3' WT Mutant 5'-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTOGAAGCTTAGGCATAT-3' WT Mutant 5-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTTGAAGCTTAGGCATCT-3' WT Mutant 5'-TAGTCGAAGCTTAGGCATCT-3' 5-TAGTCCAAGCTTAGGCATCT-3'
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