https://www.boundless.com/biology/textbooks/boundless-biology-textbook/genes-and-proteins-15/ribosomes-and-protein-synthesis-110/the-protein-synthesis-machinery-449-11674/ |
The mutations that have the greatest effect on changing bases are the insertion and deletion mutations. These are known as frame shift mutations and they have a great effect because they shift every base over creating a major problem and very different amino acids. The mutations that seemed to have the least effect on proteins where substitution mutations because they only changed one amino acid in the sequence. Mutations can have very different effects depending on where the mutation occurs. If an insertion or deletion happens near the end of a sequence it might not have as great of an effect as if it where near the beginning, as long as it does not interfere with the stop codon. Even substitution mutations can have great effects if they are in a spot where they create a new codon that is greatly different then the original codon and could have major effects.
http://academic.pgcc.edu/~kroberts/Lecture/Chapter%207/mutation.html |
In step 5 I chose a mutation that would insert T after AT. The resulting amino acid sequence was Met-Stop. This created a stop codon right after the start codon making the protein very small. In this example I used an insertion, however the same result could be made by a substitution of T with the nitrogen base after AT. This shows how the location of mutation can effect the result of a mutation. If I where to do a substitution in a different place it would likely have not had as great of an effect.
Albinism is a genetic disorder caused by a mutation in the TYR gene. The TYR gene is the gene that produces the pigment melanin in humans. With this mutation people are not able to produce pigment in their skin and eyes. This changes the phenotype of a person to having no pigment in their skin, hair and eyes.
https://www.dnalc.org/view/15932-what-is-albinism-.html
http://slideplayer.com/slide/5699007/ |
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