title: Profiling deleterious non-synonymous SNPs of smoker's gene CYP1A1.
abstract: CYP1A1 gene belongs to the cytochrome P450 family and is known better as smokers' gene due to its hyperactivation as a consequence of long term smoking. The expression of CYP1A1 induces polycyclic aromatic hydrocarbon production in the lungs, which when over expressed, is known to cause smoking related diseases, such as cardiovascular pathologies, cancer, and diabetes. Single nucleotide polymorphisms (SNPs) are the simplest form of genetic variations that occur at a higher frequency, and are denoted as synonymous and non-synonymous SNPs on the basis of their effects on the amino acids. This study adopts a systematic in silico approach to predict the deleterious SNPs that are associated with disease conditions. It is inferred that four SNPs are highly deleterious, among which the SNP with rs17861094 is commonly predicted to be harmful by all tools. Hydrophobic (isoleucine) to hydrophilic (serine) amino acid variation was observed in the candidate gene. Hence, this investigation aims to characterize a candidate gene from 159 SNPs of CYP1A1.
authors.affiliation: School of Biosciences and Technology, VIT University, Vellore, 632 014, Tamil Nadu, India.
authors.forename: A Sai
authors.initials: AS
authors.lastname: Ramesh
authors.forename: Imran
authors.initials: I
authors.lastname: Khan
authors.forename: Md
authors.initials: M
authors.lastname: Farhan
authors.forename: Padma
authors.initials: P
authors.lastname: Thiagarajan
mesh_terms: D000596:Amino Acids / Q000378:metabolism; D003198:Computer Simulation; D019363:Cytochrome P-450 CYP1A1 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D030541:Databases, Genetic; D017353:Gene Deletion; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017434:Protein Structure, Tertiary; D012907:Smoking / Q000235:genetics*; D012984:Software
chemical_list: D000596:Amino Acids; D019363:Cytochrome P-450 CYP1A1