Erchin Serpedin
Texas A&M University, USA
Title: Investigating functional relationships of five critical genes present in the familial nonsynonymous loci with risk of having acute lymphoblastic leukemia
Biography
Biography: Erchin Serpedin
Abstract
A recent whole exome sequencing of Acute Lymphoblastic Leukemia (ALL) revealed that common variations in particular non-synonymous homozygous variants affects disease risk. The present work researches into the functional consequences of the polymorphisms in the following genes: B3GALTL (rs1041073), GEN1 (rs16981869), CA9 (rs2071676), CHIT1 (rs2297950), CHRNB1 (rs17856697), ERBB2 (rs1058808) and ZNF207 (rs3795244). The Polyphen scores were evaluated using the residue changes due to missense variations and protein identifiers generated GlobPlots to predict inherent protein disorders and ProtParam provided the ‘instability indices’. Furthermore, metabolic pathways and protein networks were studied by Reactome Pathway Browser and String-db.