The following is a list of mutations that have beendiscovered in a gene that has more than 60 exons andencodes a very large protein of 2532 amino acids.Indicate whether or not each mutation could cause adetectable change in the size or the amount of mRNAand/or a detectable change in the size or the amountof the protein product. (Detectable changes in size oramount must be greater than 1% of normal values.)What kind of change would you predict?a. Lys576Val (changes amino acid 576 from lysineinto valine)b. Lys576Argc. AAG576AAA (changes codon 576 from AAG toAAA)d. AAG576UAGe. Met1Arg (at least two possible scenarios exist forthis mutation)f. promoter mutationg. one base pair insertion into codon 1841h. deletion of codon 779i. IVS18DS, G–A, + 1 (this mutation changes thefirst nucleotide in the eighteenth intron of the gene,causing exon 18 to be spliced to exon 20, thusskipping exon 19)j. deletion of the poly-A addition sitek. G-to-A substitution in the 5′ UTRl. insertion of 1000 base pairs into the sixth intron(this particular insertion does not alter splicing)
The following is a list of mutations that have been
discovered in a gene that has more than 60 exons and
encodes a very large protein of 2532 amino acids.
Indicate whether or not each mutation could cause a
detectable change in the size or the amount of mRNA
and/or a detectable change in the size or the amount
of the protein product. (Detectable changes in size or
amount must be greater than 1% of normal values.)
What kind of change would you predict?
a. Lys576Val (changes amino acid 576 from lysine
into valine)
b. Lys576Arg
c. AAG576AAA (changes codon 576 from AAG to
AAA)
d. AAG576UAG
e. Met1Arg (at least two possible scenarios exist for
this mutation)
f. promoter mutation
g. one base pair insertion into codon 1841
h. deletion of codon 779
i. IVS18DS, G–A, + 1 (this mutation changes the
first
causing exon 18 to be spliced to exon 20, thus
skipping exon 19)
j. deletion of the poly-A addition sitek. G-to-A substitution in the 5′ UTR
l. insertion of 1000 base pairs into the sixth intron
(this particular insertion does not alter splicing)
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