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Translation

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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
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Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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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.
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Related Experiment Video

Updated: Feb 28, 2026

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

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

Published on: August 20, 2019

Missense Constraint in Intrinsically Disordered Proteins Enhances Missense Variant Interpretation in

Nazareth D J Robles¹, Silvio C E Tosatto^1,2, Maria Cristina Aspromonte¹

¹Department in Biomedical Sciences, University of Padova, 35131 Padova, Italy.

|February 27, 2026

Summary

Interpreting genetic variants in intrinsically disordered proteins (IDPs) is challenging. Our study shows missense constraint is localized in neurodevelopmental disorder proteins, improving variant interpretation.

Keywords:

Missense Tolerance Ratio (MTR)intrinsically disordered proteins (IDPs)intrinsically disordered regions (IDRs)neurodevelopmental disorders (NDDs)

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Area of Science:

Genomics
Proteomics
Bioinformatics

Background:

Interpreting missense variants in intrinsically disordered proteins (IDPs) is difficult due to their lack of stable structure.
Variants in IDPs are often classified as variants of uncertain significance (VUS) due to a lack of predictive tools.
This study focuses on neurodevelopmental disorder (NDD)-associated proteins.

Purpose of the Study:

To characterize the structural landscape of NDD-associated proteins.
To quantify regional genetic constraint in these proteins.
To improve the interpretation of missense variants in IDPs.

Main Methods:

Integrated disorder annotations from DisProt and MobiDB for 339 NDD proteins.
Recalculated Missense Tolerance Ratio (MTR) using gnomAD v4.1.0.
Analyzed 33,124 ClinVar missense variants in relation to protein structure and constraint.

Main Results:

Missense Tolerance Ratio (MTR) identified localized low-tolerance subregions within intrinsically disordered regions (IDRs).
Ordered and structural transition regions showed the strongest depletion of missense variation.
Constraint levels differed modestly across structural states, but variation patterns were highly localized.

Conclusions:

Missense constraint in NDD proteins is highly localized and context-dependent.
Integrating disorder annotations with MTR profiles enhances variant prioritization.
This approach improves the interpretation of missense variants in IDPs and IDRs.