Chapter 8, Problem 43P

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 nucleotide in the eighteenth intron of the gene, causing exon 18 to be spliced to exon 20, thus skipping exon 19)
j.	deletion of the poly-A addition site
k.	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)