JSU Student Symposium 2022

Examining the Pathogenicity of CTLA4 VUS R75Q


Examining the Pathogenicity of CTLA4 VUS R75Q



Faculty Mentor

Jenna Ridlen, Biology


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Submission Type



2:15-2:25pm | Houston Cole Library, 11th Floor


SARS-CoV-2 has proven to cause new and exacerbate pre-existing health conditions in patients across the globe, raising many questions for geneticists and other researchers. Studies are beginning to emerge showing that patients have an increased risk of developing other conditions after being infected with COVID-19. Recently, a study by the Center for Disease Control discovered patient samples exhibit an increase in new diabetes diagnoses within the first 30 days after infection. A link between viral infection and autoimmune disorders is already known. The gene CTLA4, which is located at 2q33.2, codes for cytotoxic T-lymphocyte associated protein 4. This protein is important in immune response to viral infection. Diseases associated with mutations in this gene include, diabetes type 1, thyroiditis, and multiple other autoimmune disorders. The variant I have chosen to investigate is the variant of unknown clinical significance (VUS) R75Q; a missense mutation at the 75th position that results in the amino acid Arginine being replaced by Glutamine. PolyPhen2 and other bioinformatics software is used to examine the VUS potential for pathogenicity. The variant is shown to be likely pathogenic. The results from the research conducted using multiple bioinformatics platforms will be presented as well as a multiple sequence alignment with various species.


student research, biology


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Examining the Pathogenicity of CTLA4 VUS R75Q