Title
Identification and analysis of pathogenic nsSNPs in human LSP1 gene
Authors
Hani Mohammed Ali*
Affiliation
Department of Biological Science, Faculty of Science, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia
Email: hmohammedali@kau.edu.sa; haniolfat@hotmail.com; *Corresponding author
Article Type
Research Article
Date
Received September 11, 2019; Revised September 20, 2019; Accepted September 19, 2019; Published September 30, 2019
Abstract
LSP1 (Lymphocyte-specific protein 1) protein plays an important role in neutrophil motility, fibrinogen matrix proteins adhesion, and trans-endothelial migration. Variation in the LSP1 gene is associated with leukemia and lymphomas in tumor cells of Hodgkin's disease and breast cancer. Despite extensive study on the human LSP1, a comprehensive analysis on the Single Nucleotide Polymorphism (SNPs) of the gene is not available. Therefore, it is of interest to identify, collect, store and analyze the SNPs of the LSP1 gene in relation to several known diseases. Hence, the SNP data (398 rsids) from dbSNP database was downloaded and mapped to the genomic coordinate of 'NM_002339.2' transcript expressed by LSP1 (P33241). There were 300 nsSNPs with missense mutation in the dataset. Tools such as SIFT, PROVEAN, Condel, and PolyPhen-2 were further used to identify 29 highly deleterious or damaging on synonymous SNP (nsSNPs) for LSP1. These high confident damaging nsSNPs were further analyzed for disease association using SNPs & GO tool. SNPs of the gene such as nsSNPs C283R, G234R, Y328D and H325P showed disease association with high prevalence.
Keywords
SNP; Lymphocyte-specific protein; computational analysis; F-actin binding protein; neutrophil actin dysfunction
Citation
Ali, Bioinformation 15(9): 621-626 (2019)
Edited by
P Kangueane
ISSN
0973-2063
Publisher
