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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...

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In Vivo Modeling of the Morbid Human Genome using Danio rerio

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Published on: August 24, 2013

Interpreting missense mutations in Human TRIM5alpha by computational methods.

Philip A Chan¹

¹Department of Internal Medicine, Rhode Island Hospital, Providence, RI 02903, USA. pchan@lifespan.org

BMC Research Notes

|November 26, 2008

Summary

This summary is machine-generated.

Non-synonymous single nucleotide polymorphisms (nsSNPs) in the human TRIM5alpha gene may impact HIV infection. Comparative sequence analysis predicted that several nsSNPs significantly affect TRIM5alpha protein function, offering insights into HIV regulation.

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Area of Science:

Genetics
Virology
Immunology

Background:

The human TRIM5alpha protein acts as a restriction factor against human immunodeficiency virus (HIV).
The clinical significance of non-synonymous single nucleotide polymorphisms (nsSNPs) in TRIM5alpha concerning HIV infection remains largely unknown.

Purpose of the Study:

To investigate the potential impact of nsSNPs in the TRIM5alpha gene on HIV infection.
To predict the functional effects of identified TRIM5alpha nsSNPs using computational methods.

Main Methods:

A comprehensive literature survey was conducted to identify TRIM5alpha nsSNPs with available functional or clinical data.
Comparative sequence analysis was employed, utilizing SIFT, PolyPhen, A-GVGD, and average BLOSUM62 pairwise scores to predict the functional impact of each nsSNP.

Main Results:

Twenty-eight nsSNPs in TRIM5alpha were identified with associated data.
Two common nsSNPs (H43Y and R136Q) were computationally predicted as benign.
Seven nsSNPs (P323R, K324N, I328M, G330Q, R332P, I348V, and T369S) were predicted to alter TRIM5alpha protein function.

Conclusions:

Comparative sequence analysis serves as a valuable tool for functionally assessing unknown nsSNPs in TRIM5alpha.
These findings suggest that certain TRIM5alpha nsSNPs may influence HIV pathogenesis.