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Related Concept Videos

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
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
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...
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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).

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Related Experiment Video

Updated: Jul 2, 2026

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

SNAP predicts effect of mutations on protein function.

Yana Bromberg1, Guy Yachdav, Burkhard Rost

  • 1Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY 10032, USA. bromberg@rostlab.org

Bioinformatics (Oxford, England)
|September 2, 2008
PubMed
Summary
This summary is machine-generated.

This study introduces SNAP, a tool predicting the impact of single amino acid substitutions on protein function. SNAP accurately identifies neutral and non-neutral mutations, aiding researchers in prioritizing experimental validation.

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Last Updated: Jul 2, 2026

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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Exploring Caspase Mutations and Post-Translational Modification by Molecular Modeling Approaches
05:56

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Published on: October 13, 2022

Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Non-synonymous single nucleotide polymorphisms (nsSNPs) are genetic variations that can alter protein function.
  • Predicting the functional impact of these nsSNPs is crucial for understanding genetic diseases and protein evolution.

Purpose of the Study:

  • To present SNAP (Screening for Non-acceptable Polymorphisms), a publicly available server for predicting the functional effects of single amino acid substitutions.
  • To provide a reliable tool for researchers to identify potentially harmful mutations.

Main Methods:

  • Development and implementation of the SNAP prediction method.
  • Evaluation of SNAP's accuracy in identifying neutral and non-neutral mutations.

Main Results:

  • SNAP achieves high accuracy, correctly identifying over 80% of non-neutral mutations at 77% accuracy and over 76% of neutral mutations at 80% accuracy.
  • Predictions are associated with a reliability index, allowing users to prioritize results based on confidence.

Conclusions:

  • SNAP is an effective tool for predicting the functional consequences of amino acid substitutions.
  • The reliability index enhances the utility of SNAP for experimentalists, guiding them towards the most significant predictions.