Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Mutations01:35

Mutations

41.5K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
41.5K
Mutations01:39

Mutations

86.2K
Overview
86.2K
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

366
Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
366
Mismatch Repair01:20

Mismatch Repair

5.5K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
5.5K
Mismatch Repair01:36

Mismatch Repair

41.3K
Overview
41.3K
Mutations in Microorganisms01:18

Mutations in Microorganisms

198
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
198

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The PRECISE European initiative for cancer-vulnerability mapping and prediction.

Nature genetics·2026
Same author

The AlphaGenome deep learning model predicts effects of non-coding variants.

Nature structural & molecular biology·2026
Same author

Predicting the protein interaction landscape of a free-living bacterium with pooled-AlphaFold3.

Molecular systems biology·2026
Same author

The functional landscape of the human ubiquitinome.

bioRxiv : the preprint server for biology·2025
Same author

Global comparative structural analysis of responses to protein phosphorylation.

Nature communications·2025
Same author

Structure and assembly of the A-C linker connecting microtubule triplets in centrioles.

Science advances·2025

Related Experiment Video

Updated: Oct 27, 2025

A Protocol for Functional Assessment of Whole-Protein Saturation Mutagenesis Libraries Utilizing High-Throughput Sequencing
11:36

A Protocol for Functional Assessment of Whole-Protein Saturation Mutagenesis Libraries Utilizing High-Throughput Sequencing

Published on: July 3, 2016

11.1K

Exploring amino acid functions in a deep mutational landscape.

Alistair S Dunham1, Pedro Beltrao1

  • 1European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Cambridge, UK.

Molecular Systems Biology
|July 22, 2021
PubMed
Summary

This study reveals the diverse functional roles of amino acids in proteins using deep mutational scanning. It identifies 100 functional amino acid subtypes, creating a foundational catalogue of amino acid diversity.

Keywords:
amino acid functiondeep mutational scanningmutational consequencesprotein structureunsupervised learning

More Related Videos

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K

Related Experiment Videos

Last Updated: Oct 27, 2025

A Protocol for Functional Assessment of Whole-Protein Saturation Mutagenesis Libraries Utilizing High-Throughput Sequencing
11:36

A Protocol for Functional Assessment of Whole-Protein Saturation Mutagenesis Libraries Utilizing High-Throughput Sequencing

Published on: July 3, 2016

11.1K
Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

10.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genomics

Background:

  • Amino acids perform diverse roles in proteins, utilizing their chemical properties variably.
  • The full spectrum of amino acid functions and their frequencies in proteins is not well understood.
  • Quantifying mutational consequences to understand amino acid roles was historically time-intensive.

Purpose of the Study:

  • To define a comprehensive mutational landscape for amino acids in proteins.
  • To identify and characterize distinct functional amino acid subtypes.
  • To establish a data-driven catalogue of amino acid functional diversity.

Main Methods:

  • Compiled data from 28 deep mutational scanning studies.
  • Analyzed mutation consequences across 6,291 protein positions in 30 proteins.
  • Employed data-driven clustering to identify amino acid subtypes and their properties.

Main Results:

  • Established a 'mutational landscape' revealing relationships with biophysical and evolutionary properties.
  • Identified 100 functional amino acid subtypes based on mutational data.
  • Characterized subtypes by features like frequency, tolerance to charge, polarity, and hydrophobicity.

Conclusions:

  • The study provides a foundational catalogue of amino acid functional diversity.
  • The identified mutational landscape and subtypes offer insights into protein function.
  • This resource will be enhanced as more protein positions are studied.