Study of Disease-Associated and Neutral Amino Acid Mutations in Humans
Author Information
Author(s): Subramanian Sankar, Kumar Sudhir
Primary Institution: Arizona State University
Hypothesis
How do the relative perpetuation and conservation of amino acid positions modulate the genome-wide patterns of disease-associated mutations and non-synonymous SNPs?
Conclusion
The study highlights the importance of evolutionary rates of amino acid positions in understanding disease-associated and neutral population variation.
Supporting Evidence
- The abundance of disease-associated mutations shows a negative relationship with the evolutionary rate of the amino acid positions.
- Disease-associated mutations are preferentially found in amino acid positions that are conserved across multiple vertebrate species.
- The biochemical severity of mutations associated with early-onset diseases is higher than those associated with late-onset diseases.
Takeaway
This study looks at how changes in proteins can cause diseases and how these changes are related to the history of those proteins over time.
Methodology
The study used genomic-scale analysis comparing disease-associated mutations and non-synonymous SNPs across multiple vertebrate species.
Potential Biases
Potential bias due to reliance on available mutation data which may not represent all mutations.
Limitations
The study is limited to protein-coding regions and does not consider population frequency of disease-associated mutations.
Statistical Information
P-Value
p<0.01
Statistical Significance
p<0.01
Digital Object Identifier (DOI)
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