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

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

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...
Mutations01:39

Mutations

Overview
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Mutations in Microorganisms01:18

Mutations in Microorganisms

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,...

You might also read

Related Articles

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

Sort by
Same author

AIntibody: an experimentally validated in silico antibody discovery design challenge.

Nature biotechnology·2024
Same author

Exercise Training in Patients with Heart Failure: From Pathophysiology to Exercise Prescription.

Reviews in cardiovascular medicine·2024
Same author

Structural Characterization of Peptide Antibodies.

Methods in molecular biology (Clifton, N.J.)·2024
Same author

DiscoTope-3.0: improved B-cell epitope prediction using inverse folding latent representations.

Frontiers in immunology·2024
Same author

Variability analysis of LC-MS experimental factors and their impact on machine learning.

GigaScience·2023
Same author

RNA-Based Strategies for Cancer Therapy: In Silico Design and Evaluation of ASOs for Targeted Exon Skipping.

International journal of molecular sciences·2023

Related Experiment Video

Updated: Jun 8, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

PICMI: mapping point mutations on genomes.

Loredana Le Pera1, Paolo Marcatili, Anna Tramontano

  • 1Department of Biochemical Sciences, Sapienza University of Rome, P.le A. Moro, 5-00185 Rome, Italy.

Bioinformatics (Oxford, England)
|October 14, 2010
PubMed
Summary

Mapping genomic variations is challenging. The PICMI server simplifies this by quickly locating amino acid or nucleotide variations on genomes and their gene products, including alternatively spliced isoforms.

More Related Videos

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing
09:03

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing

Published on: May 10, 2020

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development
09:37

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development

Published on: March 5, 2017

Related Experiment Videos

Last Updated: Jun 8, 2026

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes
09:10

A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

Published on: May 22, 2018

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing
09:03

Introducing Point Mutations into Human Pluripotent Stem Cells Using Seamless Genome Editing

Published on: May 10, 2020

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development
09:37

Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development

Published on: March 5, 2017

Area of Science:

  • Genomics
  • Bioinformatics

Background:

  • Increasing genomic variation data from international and local projects complements existing collections.
  • Genomic variation data is becoming relevant to a broader audience, including clinical researchers.
  • Mapping variations to genomes and identifying effects on gene isoforms is a complex task.

Purpose of the Study:

  • To develop a user-friendly tool for mapping genomic variations.
  • To facilitate the analysis of variations across different gene isoforms.

Main Methods:

  • Development of the PICMI server.
  • Implementation of algorithms for mapping amino acid and nucleotide variations.

Main Results:

  • The PICMI server enables rapid mapping of variations.
  • The tool accurately identifies variations on genomes and their products, including alternatively spliced isoforms.

Conclusions:

  • PICMI provides an efficient solution for analyzing genomic variations.
  • The server aids researchers in understanding the impact of variations on gene products.