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Depending on the type of mutation produced and the protein domain affected, a SN

ID: 96904 • Letter: D

Question

Depending on the type of mutation produced and the protein domain affected, a SNP may have a profound effect on the structure and function of the mature insulin protein, or it may have no effect on the mature protein at all. In this exercise, you will use what you learned in the previous part to predict which domains will be present in the mature insulin protein produced by each patient. In addition, you will predict whether the insulin produced by each patient will function normally or whether the patient will exhibit some form of diabetes. For this exercise, assume that all patients are homozygous for the SNP. Drag blue labels to blue targets and pink labels to pink targets. Labels may be used once, more than once, or not at all. For help getting started, open the Hints.

Explanation / Answer

Answer of the Following Question

DNA SOURCES

A.A affected BY SNP

Domai affected BY SNP

Domain present in final protien

Regulation of blood glucose level

Patient 1

Val-gly

B

A+B

Normal

Patient 2

Ala74-Thr

C-peptide

A+B

Normal

Patient -3

Argnin55- Prolien

Dibasic site

A+B+C

Dibetic

Patient -4

Try103-Stop codon

A chain

A+B

Dibetic

In case of Patient -1 Mutation in Chain B where the function of amino acid almost same both amino acid are hydrophobic.So In totality, the Function of Insulin will be Unaltered and proinsulin easily splice and give rise to mature insulin (A+B) and B peptide will release and blood glucose of patient will be normal.

In case of Patient -2 Mutation in Peptide C which is usually spliced out from proinsulin and form Insulin (A+B)resultant Patient glucose will be Normal.

In case of Patient 3-

Mutation in the dibasic site it will lead problem because Dibasic site is involved in splicing of Proinsulin to functional Insulin and Proinsulin will not splice and contain (ABC) chain.The patient will be diabetic

IN case of Patient -4

The mutation. in Peptide A of Insulin resultant Immature Insulin form and the Patient will Diabetic and Insulin contain A+B chain

DNA SOURCES

A.A affected BY SNP

Domai affected BY SNP

Domain present in final protien

Regulation of blood glucose level

Patient 1

Val-gly

B

A+B

Normal

Patient 2

Ala74-Thr

C-peptide

A+B

Normal

Patient -3

Argnin55- Prolien

Dibasic site

A+B+C

Dibetic

Patient -4

Try103-Stop codon

A chain

A+B

Dibetic

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