In order to make a protein, first the
RNA must be made by the RNA polymerase using the
DNA as blueprint. The single stranded messenger RNA then goes out of the nucleus through the pores in the nuclear membrane. The RNA then goes to the
Ribosomes where it attaches and starts to create the
protein. Each
sequence of 3 nitrogen bases on the RNA is a codon which codes for 1
amino acid in a protein. The process of creating a protein is started by a start codon in the RNA and ended by a stop codon in the RNA. Once the RNA is finished with being read, the stop codon releases the amino acids and they fold up into a protein.
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.
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