Benjie Blair, Biology; Richard Watkins, Biology; Jeremy Prokop, Biology
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Houston Cole Library, 11th Floor | 1:45-1:55 p.m.
SLC6A1 is a gene in humans that codes for one of the main GABA transporter proteins in the central nervous system. This protein is associated with an autosomal dominant disorder that can cause epileptic encephalopathy. A variant at the 220 amino acid position is classified as a missense mutation that causes myoclonic-atonic epilepsy and is a result of Isoleucine being improperly replaced with Valine. This variant has not yet been clinically reported in individuals experiencing physical symptoms linked with an SLC6A1 related disease. Statistical comparison of this gene in humans to 225 other species containing the same gene was performed and aligned, where each codon was then studied for long term stability. The variant is presented with an unknown significance and a low impact score of 6 on a scale of 0 to 148.5 with a relative correspondence to other known benign variants of this gene. According to Align-GVGD, I220V is a Class 0 missense and is suspected to be least likely to affect molecular function. However, since this variant has been identified to cause myoclonic-atonic epilepsy, a model of the gene with this variant was conducted to determine molecular shifts in the transmembrane bound proteins that may have unexpected impacts when used as a transport protein for key ligands.
student presentations, student posters, epilepsy, genetics
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Barker, Brittney, "SLC6A1 I220V is Projected to Not Impact Protein Function but Could Cause Epilepsy" (2020). JSU Student Symposium 2020. 14.