JSU Student Symposium 2022

Variant of Unknown Significance V71L in Autoimmune Role of CTLA4


Variant of Unknown Significance V71L in Autoimmune Role of CTLA4



Faculty Mentor

Jenna Ridlen, Biology


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9:30-9:40am | Houston Cole Library, 11th Floor


The COVID pandemic continues to cause unforeseen patient health complications and opportunities for genetic inquiry. The CDC has discovered over the course of their extensive research in dealing with the pandemic that there is a significant risk of newly diagnosed DM1 in the 30-day period post- SARS-CoV-2 infection. There are many journals documenting the risk between viral infection and subsequent autoimmunity. CTLA4, located at 2q33.2, codes for cytotoxic T-lymphocyte protein associated protein 4--an important protein in the immune response to viral illness. This protein functions as a brake to slow down and control the action of the immune system by suppressing excessive T-cell proliferation. Mutations of the CTLA4 gene have been implicated in type 1 diabetes, autoimmune thyroiditis, lupus, celiac, and other autoimmune illnesses. My CTLA4 variant, V71L, is a missense mutation which resulted in amino acid switch from valine to leucine at position 71. YASARA protein mapping was used to analyze the features of this variation. PolyPhen2 and other analysis were completed to assess variation pathogenicity. V71L, which previously had an uncertainty as to how it would phenotypically express, was found to be likely pathogenic and probably damaging. These bioinformatic results will be presented along with cross species multiple sequence alignment and other variant analysis.


student research, biology


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Variant of Unknown Significance V71L in Autoimmune Role of CTLA4