Molecule Tutorials - Herong's Tutorial Examples
∟Gene Mutation
∟What Is Gene Mutation
Provides a quick introduction of gene mutation, which is a slight alteration of DNA or RNA nucleotides, genes or chromosomes that may occur during replication or cell division.
What Is Gene Mutation? -
Gene mutations are slight alterations of DNA or RNA nucleotides,
genes or chromosomes that may occur during replication or cell division.
Gene mutations can be categorized in different ways.
The first example is to categorize gene mutations based on
the genetic inheritance.
- Germline mutation:
This occurs in germ (egg and sperm) cells.
From a parent point of view, this will be passed
to the entire body of your child.
From a child point of view, this is inherited
from one of your parents.
- Somatic mutation:
This occurs in somatic (body) cells.
From a parent point of view, this will not be passed to your child.
From a child point of view, this is inherited if detected everywhere,
or not-inherited if detected locally.
One example is to categorize gene mutations based on the context where
the alteration takes place.
- Tautomerism: This occurs during replication of DNA in the cell nucleus.
Tautomers are mismatched pairs of nucleotide bases.
- Depurination: This is a chemical reaction that happens when the bonds
break between the deoxyribose sugar in DNA and the purine base of guanine or
adenine. Losing a purine base is a common spontaneous mutation.
- Deamination: This occurs if enzymes remove a nitrogen group from an
amino acid. For instance, the (temperature-dependent) hydrolic deamination of
cytosine to uracil is a leading cause of single-site, spontaneous mutations, as
reported in the Proceedings of the National Academy of Sciences.
- Transition and transversion: These mutations are two types of DNA
substitution errors that involve switching of nucleotide base pairs.
- Transition: This occurs due to a genetic shuffling of similarly shaped
nucleotide bases. A transition mutation occurs when a wild-type (normally
occurring) base pair like adenine and thymine are replaced by guanine and
cytosine base pairs.
- Transversion: This refers to the interchange of differently shaped
purine and pyrimidine bases. For example, the mutated segment of DNA may have
adenine replacing thymine.
Table of Contents
About This Book
Introduction of Molecules
Molecule Names and Identifications
Molecule Mass and Weight
Protein and Amino Acid
Nucleobase, Nucleoside, Nucleotide, DNA and RNA
Gene and Chromosome
Protein Kinase (PK)
DNA Sequencing
►Gene Mutation
►What Is Gene Mutation
What Is Point Mutation
Base-Pair Insertion and Deletion
Gene Mutation Inheritance Likelihood
Types of Genetic Testing
Mutation Detection with NGS
What Is Allele Frequency
What Is VCF (Variant Calling Format)
"vcftools" - VCF Utility Command
What Is VAF (Variant Allele Frequency)
Gene Mutation Naming Convention
Gene Mutation Test Report
What Is ctDNA Testing
Sanger Sequencing Test Report
SDF (Structure Data File)
PyMol Installation
PyMol GUI and CLI
PyMol Selections
PyMol Editing Functions
PyMol Measurement Functions
PyMol Movie Functions
PyMol Python Integration
PyMol Object Functions
ChEMBL Database - European Molecular Biology Laboratory
PubChem Database - National Library of Medicine
PDB (Protein Data Bank)
INSDC (International Nucleotide Sequence Database Collaboration)
HGNC (HUGO Gene Nomenclature Committee)
Relocated Tutorials
Resources and Tools
Molecule Related Terminologies
References
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