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Related Concept Videos

Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...
Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key locations, protein...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
Conservation of Protein Domains Over Different Proteins02:26

Conservation of Protein Domains Over Different Proteins

Protein domains are small structurally independent units that are part of a single amino acid chain.  Although these domains are often structurally independent, they may rely on synergistic effects to perform their functions as part of a larger protein. Protein domains may be conserved within the same organism, as well as across different organisms.
A limited set of protein domains often duplicate and recombine during evolution. These domains can be organized in different combinations to form...
Gene Duplication and Divergence02:37

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.

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Related Experiment Video

Updated: Jun 13, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Human allelic variation: perspective from protein function, structure, and evolution.

Daniel M Jordan1, Vasily E Ramensky, Shamil R Sunyaev

  • 1Division of Genetics, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.

Current Opinion in Structural Biology
|April 20, 2010
PubMed
Summary
This summary is machine-generated.

Computational methods analyzing protein sequences and structures can predict the functional impact of human genetic variations. This aids in understanding genetic diversity, evolutionary pressures, and diagnosing genetic diseases.

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Last Updated: Jun 13, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Published on: January 16, 2019

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • The complete characterization of DNA sequences in human protein-coding regions is imminent.
  • Understanding the functional impact of genetic variations is crucial for various research fields.

Purpose of the Study:

  • To outline the utility of computational methods for predicting the functional effects of coding human alleles.
  • To highlight the applications of functional and structural analysis of allelic variants in genetic research.

Main Methods:

  • Comparative protein sequence analysis.
  • Protein structure analysis.
  • Computational prediction of allelic variant effects.

Main Results:

  • Functional and structural analyses inform population and evolutionary genetics by estimating selection against mutations.
  • These methods aid medical genetics in interpreting uncharacterized mutations in disease-related genes.
  • Potential to facilitate medical sequencing for identifying genes in Mendelian diseases and complex traits.

Conclusions:

  • Computational approaches for analyzing protein sequences and structures are vital for interpreting human genetic variation.
  • These analyses have broad applications in evolutionary studies, disease gene discovery, and understanding genetic diversity.