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Mutations

Mutations

Mutations

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...

Mutations

Mutations

Point and Frameshift Mutations

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...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mismatch Repair

Mismatch Repair

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Related Experiment Video

Updated: Mar 31, 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

HPMV: human protein mutation viewer - relating sequence mutations to protein sequence architecture and function

Westley Arthur Sherman¹, Durga Bhavani Kuchibhatla¹, Vachiranee Limviphuvadh¹

¹Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis Street #07-01, Matrix, Singapore 138671, Singapore.

Journal of Bioinformatics and Computational Biology

|October 28, 2015

Summary

This summary is machine-generated.

The Human Protein Mutation Viewer (HPMV) tool analyzes non-synonymous human mutations in protein-coding regions. It visualizes mutation impacts on protein sequence architecture, aiding genetic disorder research.

Keywords:

Human protein mutations clinical genome sequencing genomic variation protein function protein sequence architecture

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Area of Science:

Genomics and Bioinformatics
Molecular Biology
Computational Biology

Background:

Advances in next-generation sequencing increase the identification of human mutations linked to genetic disorders.
Understanding the biomolecular mechanistic significance of these mutations is crucial for genetic disorder research.

Purpose of the Study:

To introduce the Human Protein Mutation Viewer (HPMV), a tool designed to explore the mechanistic impact of non-synonymous human mutations.
To help researchers assess how protein mutations affect sequence-architectural features relevant to genetic disorder causation.

Main Methods:

HPMV accepts protein mutations via UniProt accessions, genome coordinates, or FASTA sequences.
The tool generates an interactive cartoon visualizing mutations against protein sequence architecture elements.
Features include multiple sequence alignments, 3D structure mapping, and cross-species sequence comparisons.

Main Results:

HPMV provides interactive visualization of mutations in relation to protein sequence architecture.
Detailed information, including conserved domain alignments and 3D structure mapping, is accessible.
The tool can suggest interpretations for mutations impacting well-understood functional elements.

Conclusions:

HPMV facilitates the interpretation of non-synonymous human mutations by visualizing their impact on protein structure and function.
The tool aids in understanding the biomolecular mechanisms underlying genetic disorders.
HPMV is available as a downloadable Java application for offline use.