Benjie Blair, Biology; Richard Watkins, Biology; Jeremy Prokop, Biology
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SLC6A1 is a gene that encodes for gamma-aminobutyric acid, otherwise known as GABA, transporters. They facilitate the removal of GABA from the brain, ensuring it doesn’t build up and inhibit the brains neuronal function. These transporters are found in various regions of the brain and are linked to sodium concentrations. SLC6A1 has been reported to exhibit many different mutations, some of which can cause a form of epilepsy, Myoclonic-Atonic Epilepsy (MAE) or severe autism with seizures consistent with the MAE. Not all mutations (variants) of the SLC6A1 lead to clinical manifestations. This project is focused on developing methods to rapidly assess the possible variants association with specific diseases and to indicate whether it is likely the cause of specific genetic diseases. The mutation examined in this presentation is known 419RC. This particular variant as a low conservation score on the amino acid (0.25) which indicates it is not as likely to cause disease as other variants. However, it interestingly has a 21-codon region score that is fairly high, 1.5 out of 2.6 which indicates that the protein motif where it is located may increase chances that it is deleterious. This variant was listed as being of unknown significance however the patient is listed as having clinical symptoms. The modeling should confirm changes in the 3D shape of the protein consistent with a pathogenic variant. It may also indicate that specific drugs would be recommended for treatment of the disease.
student presentations, student posters, epilepsy, genetics
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McCoy, Eryn, "SLC6A1, Its Variations, and Their Link to Epilepsy" (2020). JSU Student Symposium 2020. 10.