Question

Given the following transcripts: 1.) 5' - AUG GUG CAC CUG ACU CCU GAG GAG AAG...

Given the following transcripts:

1.) 5' - AUG GUG CAC CUG ACU CCU GAG GAG AAG UCU GCC GUU ACU -3'

2.) 5' - AUG GUG CAC CUG ACU CCU GUG GAG AAG UCU GCC GUU ACU - 3'

I need to determine what difference exist between the two transcripts.  How is GAG in transcript #1 different then GUG in transcript #2? What does this mean?

Thank you!

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Answer #1

In transcript 1, GAG codes for Glutamic acid.

In transcript 2, GUG codes for valine.

This is classically seen in sickel cell Anemia.

Where the beta chain of globin protein, at 6th position, Glutamic acid is replaced by valine. This causes changes in the structure if Hemoglobin resulting in sickel cell disease.

Now as a single base is altered,this is an example of point mutation.

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