Benjie Blair, Biology
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SLC6A1 is a gene which encodes a gamma-aminobutyric acid (GABA) transporter protein. This protein is responsible for removing the GABA from the synaptic cleft and reinstating it back into the presynaptic terminals. Mutations of this gene are associated with an early onset autosomal dominant epileptic encephalopathy which causes an intellectual disability. The R479* protein variant in the SLC6A1 gene is a single nucleotide variant, 1 base pair long, which creates a premature stop signal. The result of this is thought to be either the absence or disruption of the protein product. This variant has yet to be tested, however, it is considered pathogenic because all previously tested loss-of-function variants in the SLC6A1 gene have been pathogenic. Patients with this mutation have Myoclonic-atonic epilepsy which originates from the germline allele.
student presentations, student posters, epilepsy, genetics
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Taymon, Kristen Nichole, "SLC6A1 Gene Variant R479: the Effects of a Mutant Stop Signal on the GABA Transporter Protein" (2020). JSU Student Symposium 2020. 33.