What is a Point Mutation?

The alteration that occurs to the nucleotide sequence present in the

genome of a virus or an organism or extrachromosomal DNA  is called a
mutation. There are chances that mutation can either produce detectable
changes that are observable in an organism or it cannot produce it. They
can either prevent the genes from functioning properly or can have no
effect or it can alter the product of the gene. It involves the duplication
of DNA in large sections. 
There are different types of mutations that occur in an organism; they
are chromosomal mutation and point mutation. If the mutation occurs as
a result of crossing over in the meiosis is called a chromosomal
mutation. When there is an alteration in the single base pair is known as
a point mutation. 
Point mutation, also known as substitution, is a type of genetic mutation
where the nucleotide base is inserted, deleted, or changed in the DNA or
RNA of the genome of an organism. These have a variety of effects on
the products, where the consequences are predictable with the specific
mutation. 
In regard to the synthesis of protein, its function, and its composition the
range of these consequences can be determined from no effect to
deleterious effects. Point mutation examples include sickle-cell anaemia
and cystic fibrosis. 

Types of Point Mutations

In the case of point mutations there are two different types of mutations
these are further divided depending on the form they mutate
 1. Substitution Mutations: If the mutation occurs by the substitution
of a nucleotide in the genome of an organism then it is known as a
substitution mutation. It is further subdivided into three types:
 Silent mutation
 Mis-sense mutation
 Nonsense mutation
In the case of silent mutation, a nucleotide can be substituted that results
in the formation of the same amino acid, and this situation can make the
multiple codons code for the same amino acid. The effect on the protein
will be less, for example, codons AAA and AAG codes for lysine, and in
the case instead of ‘G’ if ‘A’ is produced then the same amino acid is
formed thus the effect on the protein is not found.
In the case of non-sense mutation, the nucleotide is substituted resulting
in the formation of a stop codon instead of the formation of the codon
that codes for the amino acid. These stop codons are certain sequences
of the base chain that have the capability to stop amino acid chain
production. At the end of the mRNA sequence in the production of the
protein, it is always found and when the substitution occurs it will
terminate the sequence of amino acids and prevent the formation of the
correct protein.
The missense mutation occurs when the nucleotide is substituted which
results in the formation of the different codon. It is the same as that of
the non-sense mutation but in this case, the difference is the newly
produced codon is not a stop codon but it is a different amino acid in the
sequence. For example, if AAG is substituted as AGG then this codon
relates to arginine instead of lysine. This type of mutation is said to be
conservative if the amino acid that has to be formed instead of that of the
amino acid that is formed from the missense mutation shares similar
properties. The mutation is said to be non-conservative if different
properties are found in the amino acid that has to be formed instead of
that of the amino acid that is formed from the missense mutation. 

2. Insertion or Deletion Mutations: When an extra-base pair is added

to the sequence of the amino acid then the insertion mutation occurs. If
an extra-base pair is removed from the sequence of the amino acid then
it is said to be a deletion mutation. These types of mutation are grouped
together since they can affect the sequence of the amino acid
drastically. 
When one or two bases are deleted or added the change in all three base
codons occurs that results in the mutation, it is also known as frameshift
mutation. Suppose the sequence in the DNA is CCT ATG TTT if ‘A’ is
added in between the cytosine and the change in the sequence will be as
CAC TAT GTT T this changes the structure and functioning of the
protein formed and sometimes can make this protein useless. The same
effect can be found if a base is deleted.

Consequences of Point Mutation

In the non-coding sequences, most of the time the point mutation occurs
without any consequences. If the mutated base pair is present in the
promoter sequence then the gene expression will vary. If the splicing site
of an intron the point mutation is involved then it interferes with the
splicing site of the transcribed mRNA in the correct form.
By altering one amino acid the entire peptide chain will change this, in
turn, changes the entire protein. Thus the newly formed protein is called
a protein variant. If this original protein is involved in the functioning of
the cellular reproduction then the single point mutation involves the
change in the entire process of cellular reproduction. 
The point germline mutations can be beneficial as well as can cause
diseases. Depending on the environment where the organism lives the
adaptations can happen. The scientific theory of evolution is completely
based on the point mutation that happens in the cells. This theory
explains the history and diversity of the organisms present on the Earth.
The beneficial mutations can help the organism to reproduce where the
positively affected genes are passed to the next generation. The harmful
mutations can make the organism reduce the process of reproduction or
it can make the organism die this happens through a phenomenon called
natural selection.
In mutations, the long-term and short-term effects can arise. Where the
long-term effects are permanent by changing the chromosome that leads
to mutation, short-term effects are involved in the halting of the cell
cycle at different stages. For example, a codon that codes for glycine is
changed to form a stop codon makes the protein stop the tasks that are to
be performed. Mutations can affect the DNA and prohibit the process of
mitosis due to the absence of the complete chromosome. An example of
the long-term effects is cancer.
The other effects of the point mutation involve the location where the
mutation happens in the gene. If the mutation occurs in the gene that is
responsible for the coding then the amino acid sequence of a protein can
be altered. This alteration leads to protein localization, changes in the
function, or protein complex. Many of the methods have been proposed
in the determination of the effects of missense mutations. While these
methods provide only the binary classification of the effects of the
mutations if they are benign or damaging, another level is required to
provide the explanation of why and how the mutations are capable of
damaging the proteins.
If the mutation occurs in the region where the proteins are bound with
the transcriptional machinery then the mutation can affect the factors of
binding. Thus the rate of efficiency of the gene transcription can be
affected. This in turn alters the levels of mRNA and proteins. The
transcription mechanism of binding to a protein is through the
recognition of the short nucleotide sequence. Depending on the region of
the amino acid sequence of the protein the point mutation can affect the
behaviour and the reproduction of the protein in several ways. If the
mutation occurs in the region where the gene is responsible for the
coding of the protein then the alteration in the amino acid can be found.
This change can affect the protein activation that is how the protein is
bound to the enzyme or the change in the function. 

Diseases Caused by Point Mutations

1. Cystic Fibrosis: It is most commonly found in people of European
descent, it is an inherited recessive disorder. There are many types of
mutations that can cause CF, but the common one is the deletion of the
three nucleotide bases in the CFTR gene that is abbreviated as cystic
fibrosis transmembrane conductance regulator gene. This results in the
loss of the phenylalanine amino acid and makes the protein folding
incorrect. The symptoms are thick sticky mucus found in the lungs.
Salty sweat, trouble while breathing, shortened life expectancy, and in
some individuals it can cause infertility.

2. Sickle-Cell Anaemia: The single substitution in the gene of the

haemoglobin that carries the oxygen in the blood causes sickle-cell
anaemia. It is a recessive disorder. The valine is produced instead of the
glutamic acid in the chain by the substitution. When there is the
presence of two copies in the people this leads to the change of the blood
cells from disc-shaped to sickle-shaped that lacks the supply of oxygen
to the blood. Almost 80 percent of the people with this disease can
protect against malaria. The symptoms are chest pain, obstruction of the
blood vessels, and anaemia. 

3. Tay-Sachs: It is another recessive disorder caused due to point

mutation where the effects are found on the HEXA gene of chromosome
15. It can cause the nerve cells to deteriorate which results in the decline
of the mental and physical functioning of the body. 
Conclusion
The point mutations can be beneficial as well they can cause harmful
effects. It is depending on the environment it is adapted to. The point
mutations are sometimes caused by the replication of DNA. The rate of
these mutations can increase when these are exposed to the mutagens
such as extreme heat, X-rays, UV rays, or due to some of the chemicals
such as benzene.