Benjie Blair, Biology; Richard Watkins, Biology; Jeremy Prokop, Biology
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SLC6A1 is a gene with several variants that often express themselves phenotypically through slowed cognitive development, early onset seizures, and epileptic encephalopathy. The particular variant in question is the amino acid sequence R44P. According to PubMed, R44P is a sequence change in which arginine is replaced with proline at codon 44 of the SLC6A1 protein. This patient, which was reported to ClinVar, represents the only documented account of this sequence and was placed into the category of uncertain significance. However, that account recorded the condition of myoclonic-atonic epilepsy and was defined as deleterious and probably damaging in its effects. Also, the variant R44P has a total impact score of 53.8125 which put it in the middle range for the impacts of all known SLC6A1 variants. Compiled metrics provided statistics that demonstrated that the impact score does place the variant in a mixture of groupings with some pathogens and benign patients. Further modeling is important to understand the effect of this mutation on the overall organization of this transmembrane protein.
student presentations, student posters, epilepsy, genetics
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Hudon, Caleb, "Unraveling R44P: A SLC6A1 Variant Which Induces Childhood Epilepsy" (2020). JSU Student Symposium 2020. 15.