A Computational Study of the Functional and Structural Impact of Deleterious SNPs in the BCL11B Gene

Abstract

Single nucleotide polymorphisms (SNPs) play a significant role in analyzing the genetic basis of complex human diseases. Deleterious SNPs cause changes in the amino acid residues and therefore, are important factors in contributing structural and functional diversity of the encoded protein. The specific functions of BCL11B gene have not been determined yet, but the encoded protein is known to be a key regulator of both differentiation and survival of T-lymphocytes with potential impact on T-ALL (T-cell acute lymphoblastic leukaemia). In this study, a sequence and structure-based computational analysis was used to sort out deleterious SNPs of BCL11B gene to understand its function and possible involvement in carcinomas and other diseases. The analysis identified 3 deleterious mutations (P697L, R620C, T243M) in the coding region of BCL11B gene. However, to establish their role in the pathogenesis of disease, further studies should be done on the deleterious mutations of BCL11B gene.