JSU Student Symposium 2022

An Exploration into the Effect of T147A Clinical VUS in CTLA4


An Exploration into the Effect of T147A Clinical VUS in CTLA4



Faculty Mentor

Jenna Ridlen, Biology


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9:15-9:25am | Houston Cole Library, 11th Floor


Viral infections have always had an impact on health conditions, COVID has been one of the more recent viral infections that has shown the unforeseen health complications which had surfaced after contracting the infection. A recent CDC study had shown a health complication of an increased risk of newly diagnosed diabetes in the 30 days following SARS-coV-2 infection. This allowed for genetic inquiry into the risk between autoimmune diseases and viral infections which had been observed and documented thoroughly. As well as inquiry into the genes of the immune system. CTLA4, located at 2q33.2, is a gene which is also known as cytotoxic Tlymphocyte associated protein 4, is among the immunoglobulin superfamily that produces a T cell inhibitory protein. This gene is a protein receptor that functions as an immune checkpoint and is vital in the immune response to viral illnesses. The mutations of the CTLA4 gene have been implicated in type 1 diabetes (DM1), autoimmune thyroiditis, celiac, lupus, Graves disease and other autoimmune illnesses. My CTLA4 variant, T174A, is a missense mutation which resulted in an amino acid switch from threonine to alanine at position 174. The bioinformatic tools of PolyPhen2, YASARA protein mapping and other analyses were utilized to assess variation pathogenicity, as well as analyze the features of this particular variant. These bioinformatic results will be presented along with cross species multiple sequence alignment and other variant analysis.


student research, biology


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An Exploration into the Effect of T147A Clinical VUS in CTLA4