Benjie Blair, Biology; Richard Watkins, Biology; Jeremy Prokop, Biology
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SLC6A1 is a gene that encodes for a GABA transporter responsible for the reuptake of GABA from the space around the synapse after neural stimulation has occurred. The rare genetic disorder SLC6A1 epileptic encephalopathy is caused by a dominant, non-inherited mutation in SLC6A1, resulting in the loss of the transporter protein function. This condition is noted by the development of seizures within the first few years along with mental retardation and behavioral issues disorders found on the autism spectrum. An analysis performed by the biotech company HudsonAlpha discovered many variations in the gene of those affected with this disorder such as the variant 468 C R which has been found in association with myoclonic-atonic epilepsy but the significance of this is currently unknown. Along with this discovery, data collected on this variant by Dr. Jeremy Prokop from Michigan State University, a comparison of the amino acid swap in #468 from Cysteine to Arginine (C to R) in a known patient exhibiting clinical symptoms was performed. Compiled metrics and statistics comparing this variant to all the known variants listed in ClinVar, TopMed and GnomAD as well as evolutionary comparison to 225 species has established a method for determining the impact of this variant as it relates to other known samples. It also has a high possible impact for motif involvement in the development of the disease. This indicates that a variation in amino acid sequence in this location is highly likely to result in deleterious effects on the patient. This protein will be modeled using YASARA software to observe the change that has happened to the protein. Using graphs and databases, I’ve shown that 468 C R is very similar to the patient variant giving more cause to the idea that this variant mostly likely causes the disorder.
student presentations, student posters, epilepsy, autism, genetics
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Harris, Shelby, "The Role of SLC6A1 Variant 468 C R in Myoclonic-Atonic Epilepsy and Autism" (2020). JSU Student Symposium 2020. 40.