1.

Point Mutations: These mutations involve changes in a single nucleotide within the
DNA sequence.
 Substitution: One nucleotide is replaced by another. For example: Original:
ATGCGA Mutated: ATTCGA (a T replaces a G)
2. Frameshift Mutations: These mutations involve the insertion or deletion of one or
more nucleotides, which shifts the reading frame of the gene.
 Insertion: One or more nucleotides are added to the DNA sequence. For
example: Original: ATGCGA Mutated: ATAGCGA (an extra A is inserted)
 Deletion: One or more nucleotides are removed from the DNA sequence. For
example: Original: ATGCGA Mutated: AGCGA (the T is deleted)
3. Silent Mutations: These mutations result in a change in the DNA sequence but do not
alter the amino acid sequence of the protein due to the redundancy of the genetic code.
 Silent Substitution: A nucleotide change that does not change the amino acid
coded for. For example: Original: ATGCGA Mutated: ATGTGA (codes for the same
amino acid, Tryptophan)
4. Missense Mutations: These mutations result in the substitution of one amino acid for
another in the protein sequence.
 Non-conservative Missense Mutation: A nucleotide change that leads to a
different amino acid with significantly different properties. For example: Original:
ATGCGA (codes for Methionine) Mutated: ATGCAA (codes for Histidine)
5. Nonsense Mutations: These mutations introduce a premature stop codon, resulting in
the production of a truncated, usually non-functional protein.
 Nonsense Mutation: A nucleotide change that creates a stop codon where none
existed before. For example: Original: ATGCGA Mutated: ATGTGA (premature
stop codon)
6. Splice Site Mutations: These mutations affect the splicing of introns and exons during
mRNA processing.
 Splice Acceptor Site Mutation: A mutation that affects the recognition of the
intron-exon boundary, leading to aberrant splicing. For example: Original: ...AG|
GTAAG... Mutated: ...AG|TTAAG... (changed acceptor site)
7. Duplication and Deletion Mutations: These mutations involve the duplication or
deletion of segments of DNA.
 Tandem Duplication: A segment of DNA is duplicated adjacent to the original
segment. For example: Original: ATGCGA Mutated: ATGCGAATGCGA
 Deletion: A segment of DNA is lost. For example: Original: ATGCGA Mutated:
ATGA (the CGA is deleted)
8. Inversion Mutations: These mutations involve the reversal of a segment of DNA.
 Inversion: A segment of DNA is flipped and inserted back into the sequence. For
example: Original: ATGCGA Mutated: ATGAGC
9. Translocation Mutations: These mutations involve the movement of a segment of DNA
from one chromosome to another.
 Reciprocal Translocation: A segment of DNA is exchanged between two non-
homologous chromosomes. For example: Original: Chromosome 1: ATGCGA,
Chromosome 2: TTTACC Mutated: Chromosome 1: ATTACC, Chromosome 2:
TTGCGA
1. Point Mutations:
 Missense Mutation: A single nucleotide change results in the substitution of one
amino acid in the protein sequence.
 Example: Sickle Cell Anemia (HbS mutation in the β-globin gene)
 Nonsense Mutation: A single nucleotide change introduces a premature stop
codon, leading to a truncated protein.
 Example: Cystic Fibrosis (CFTR gene mutations)
2. Frameshift Mutations:
 Insertion or Deletion Mutation: Addition or removal of one or more
nucleotides, causing a shift in the reading frame.
 Example: Tay-Sachs Disease (HexA gene mutations)
3. Chromosomal Mutations:
 Deletion: Loss of a segment of a chromosome.
 Example: Cri-du-chat Syndrome (Deletion of a portion of chromosome 5)
 Duplication: Presence of an extra copy of a segment of a chromosome.
 Example: Charcot-Marie-Tooth Disease Type 1A (Duplication of a segment
of chromosome 17)
 Translocation: Movement of a segment of a chromosome to another
chromosome.
 Example: Chronic Myeloid Leukemia (Philadelphia chromosome
translocation)
4. Trinucleotide Repeat Expansions:
 Expansion of Repeats: Increase in the number of trinucleotide repeats in a gene,
leading to altered protein function.
 Example: Huntington's Disease (HTT gene with expanded CAG repeats)
 Example: Fragile X Syndrome (FMR1 gene with expanded CGG repeats)
5. Splice Site Mutations:
 Intron Mutation: Alteration in the intron-exon junction, affecting proper mRNA
splicing.
 Example: Beta-Thalassemia (Mutations affecting splicing of the beta-globin
gene)
6. Silent Mutations:
 Synonymous Mutation: A nucleotide change that does not result in an amino
acid change due to the redundancy of the genetic code.
 Example: Not typically associated with specific diseases
7. Noncoding RNA Mutations:
 MicroRNA Mutation: Mutations in microRNA genes can disrupt their regulatory
function.
 Example: MicroRNA-155 and B-cell lymphoma
8. Gene Duplication:
 Duplication of Gene: Extra copies of a gene can lead to altered gene dosage
and function.
 Example: Alpha-Globin Gene Duplication (Alpha-thalassemia)
9. Nuclear vs. Mitochondrial Mutations:
 Nuclear DNA Mutation: Mutations in the nuclear DNA affect genes in the cell
nucleus.
 Example: Duchenne Muscular Dystrophy (DMD gene mutations)
 Mitochondrial DNA Mutation: Mutations in the mitochondrial DNA affect
genes in the mitochondria.
 Example: Leber's Hereditary Optic Neuropathy (LHON)

Introns are known as interfering sequences present in mRNA

transcript. These are the nucleotide sequences which do not encode
any amino acid sequence in the coding region. Exons are the
expressing sequences present in mRNA transcript. These are the
nucleotide sequences which encode for amino acids.