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

Human Genetics01:28

Human Genetics

1.4K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
1.4K
Genetic Screens02:46

Genetic Screens

5.5K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.5K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

767
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...
767

You might also read

Related Articles

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

Sort by
Same author

Sonographic features of low-grade appendiceal mucinous neoplasms.

Medical ultrasonography·2026
Same author

Acute Capillary Plasma Biomarker, Neuromuscular, and Perceptual Responses to Standardised Soccer Match Play in Elite Players: A Descriptive Study of Asynchronous Multi-Domain Recovery.

Metabolites·2026
Same author

A sequential ultrasound approach to diaphragmatic paralysis from delayed phrenic neuritis after varicella-zoster virus infection.

Internal and emergency medicine·2026
Same author

A Predictive Model for Differential Diagnosis of Cardiogenic and Non-cardiogenic Dyspnea in Patients with Chronic Kidney Disease Based on Cardio and Lung Ultrasound Features: A Single-Center Observational Study.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine·2026
Same author

Cholesteric Liquid Crystal Microdroplets with Dual-Mode Structural Color Enabling Programmable Thermochromic Displays.

ACS applied materials & interfaces·2026
Same author

Fungal exosome-like nanoparticles ameliorate exercise capacity and metabolic health in sleep-deprived mice by modulating the gut microbiota.

Food & function·2026
Same journal

UPF3A and UPF3B shape the transcriptome cooperatively yet oppose cell function.

Journal of molecular biology·2026
Same journal

Antibody-secreting cells integrate efficient NMD with non‑canonical UPR signaling to maintain proteostasis and support massive immunoglobulin synthesis.

Journal of molecular biology·2026
Same journal

Small molecule stabilization of diverse amyloidogenic immunoglobulin light chains revealed by hydrogen-deuterium exchange mass spectrometry.

Journal of molecular biology·2026
Same journal

UPF1 at Work: Structural and Mechanistic Insights Into a Master Regulator of Nonsense-Mediated mRNA Decay.

Journal of molecular biology·2026
Same journal

Structural basis for the pro-amyloidogenic action and ligand binding of a novel W72R variant of human apolipoprotein A-I.

Journal of molecular biology·2026
Same journal

Cryo-EM Structure of the C. elegans Septin Tetramer Reveals a Revised Architecture and Conserved Positional Orthology.

Journal of molecular biology·2026
See all related articles

Related Experiment Video

Updated: Jan 8, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K

Missense3D-PTMdb: A Web Tool for Visualising and Exploring Human Genetic Variants and Post-translational Modification

Haotian Zhao1, Ryan Pye1, Grace Walker1

  • 1Centre for Integrative Systems Biology and Bioinformatics, Department of Life Sciences, Imperial College London, London SW7 2AZ, UK.

Journal of Molecular Biology
|December 18, 2025
PubMed
Summary
This summary is machine-generated.

A new web tool, Missense3D-PTMdb, maps millions of human missense variants onto protein structures. This resource helps identify variants potentially affecting protein function through post-translational modifications (PTMs).

Keywords:
3D structuresAlphaFoldPTMsmissense variants

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.3K

Related Experiment Videos

Last Updated: Jan 8, 2026

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.4K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.2K
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

19.3K

Area of Science:

  • Genomics
  • Proteomics
  • Bioinformatics

Background:

  • Millions of human missense variants lack known clinical significance.
  • Post-translational modifications (PTMs) critically regulate protein function and structure.
  • PTMs rely on protein folding and enzyme interactions at specific amino acid sites.

Purpose of the Study:

  • To develop a resource for exploring missense variants in the context of PTMs.
  • To leverage AlphaFold models for predicting the impact of variants on PTMs.
  • To provide a user-friendly platform for variant-PTM analysis.

Main Methods:

  • Integrated 11.5 million human missense variants with >60 PTM types.
  • Utilized AlphaFold models for 20,235 human proteins.
  • Developed an interactive web tool (Missense3D-PTMdb) for sequence-structure mapping.

Main Results:

  • Created a comprehensive database linking variants, PTM sites, and 3D protein structures.
  • Enabled visualization of known and novel variants concerning PTMs.
  • Mapped 203,775 PTM residues and their neighboring variants.

Conclusions:

  • Missense3D-PTMdb facilitates the experimental investigation of missense variants affecting PTMs.
  • The tool enhances understanding of variant impact on protein function.
  • Provides a valuable resource for genetic variant interpretation and functional genomics research.