Histone deacetylase 8 (I94T)

Khushmeet Kathuria, Dr.Cynthia Stenger, Dr.Jeremy W Prokop, Dr.Jared Painter.

This work is part of a large-scale project with other scientists and undergraduates at Jacksonville State University (JSU) as well as the Michigan State University (MSU) Prokop Lab.The purpose of the large-scale project is to analyze mutations (variations) from several different genes. The gene HDAC8 is explored in this particular project. The variant HDAC8 was assessed through the workflow known as sequence-to-structure-to-function. It was compared to all ClinVar, gnomAD, and TopMed missense variants for the gene HDAC8. All variants were assessed with AlignGVGD, PolyPhen2, Provean, and SIFT. At the beginning of the project, the mutation was considered a variant of uncertain significance. However, during the research process, the variant was classified in the likely disease category.The variant is likely to cause disease and may have moderate impact.A patient with I94T mutation has been presented in this case study. The result of which is Cornelia de Lange syndrome (CdLS) and neuronal disorders. This variant includes a swap in a conserved nucleotide. Conserved sequences, which includes conserved nucleotides, are sequences that stayed preserved in the genome despite normal genetic variations and take longer to mutate than the normal rate.According to the reports of the Slow Homology mutation model of HDAC8 the secondary structure predictions data shows in the Sequence column 19th which is Isoleucine ,the probability of having a strand is 90 percent and in the Sequence first sequence column of Tyrosine the probability of having coil is 30 percent and probability of having helix is 60 percent. For the variant 94, I swapped Isoleucine for Tyrosine. This means that the mutation I94T is a hydrophobic acid that is non-polar with the negative charge. This means the mutation I94T would resist water and not dissolve in it.

Additional Abstract Information

Presenter: Khushmeet Kathuria

Institution: University of North Alabama

Type: Poster

Subject: Biological & Chemical Engineering

Status: Approved

Time and Location

Session: Poster 2
Date/Time: Mon 3:00pm-4:00pm
Session Number: 2530