Related Experiment Video
Updated: Mar 8, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
An Analysis of Single Nucleotide Substitution in Genetic Codons - Probabilities and Outcomes
Tariq Abdullah1, Muniba Faiza1, Prashant Pant2
1Department of Computer Science, Faculty of Natural Sciences, Jamia Millia Islamia, New Delhi , India.
Background:
Single nucleotide substitutions (SNS) in genetic codon are of prime importance due to their ability to alter an amino acid sequence as a result. Given the nature of genetic code, any SNS is expected to change the protein sequence randomly into any of the 64 possible codons. In this paper, we present a theoretical analysis of how single nucleotide substitutions in genetic codon may affect resulting amino acid residue and what is the most likely amino acid that will get selected as a result.
Methods:
A probability matrix was developed showing possible changes and routes likely being followed as a result of base substitution mutation causing changes at the translational level for the amino acid being encoded.
Results:
We observe that in event of single base pair substitution in a given amino acid; a chosen set of amino acids is theoretically more probable to be resulted suggesting a directional rather than a random change. This study also indicates that for a given amino acid coded by a number of synonymous codons, all synonymous codons will result into same list of amino acids in case of all possible SNS at three positions.
Conclusion:
The present work has resulted into development of a theoretical probability matrix which can be used to predict changes in amino acid residues in a protein sequence caused by single base substitutions.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
From DNA to Protein
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Gene Evolution - Fast or Slow?
In contrast, regions which code...

