Benjie Blair, Biology
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Through information provided by ClinVar a patient exhibiting the conditions of Immunodeficiency-10, tubular aggregate myopathy, and Stormorken syndrome was selected for this project. After genomic testing the patient also showed a single nucleotide variant in the gene SLC6A1 named S459R. This variant results in a protein in which its 459 amino acid, Serene, is replaced with Arginine. Some variants of SLC6A1 are associated with an epileptic encephalopathy with intellectual disability and autosomal dominant early onset seizures. These symptoms were not reported in this patient. The variant has been classified as being of uncertain significance to the patient’s clinical symptoms. Compiled metrics through custom tools on sequence, structure, and protein dynamics (Prokop) combined with Align-GVGD, PolyPhen2, Provean, and SIFT show this variant to rank in the low to moderate functional outcome changes of SLC6A1 compared to all ClinVar, gnomAD, and TopMed variants assessed to date. The results of these comparisons indicate that there is little evidence to suggest a link between this particular variant and the development of Stormorken syndrome in the patient.
student presentations, student papers, Stormorken syndrome, genetics
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Highfield, Charles, "A Bioinformatic Evaluation of a Variant in GABA Transporter Gene SLC6A1 in Conjunction with a Clinical Condition Known as Stormorken Syndrome" (2020). JSU Student Symposium 2020. 20.