In-Silico Analysis For Pathogenicity Prediction of Single Nucleotide Polymorphisms in Human Lmo1 Gene

Background and aim: : rhombotin-1 is a protein that in humans is encoded by the lmo1 gene. this gene has a length 4.4 kb and contains 5 exons. its protein comprises two highly conserved, cysteine-rich motifs known as lim domains, which interact with other proteins. as lmo1 has no dna-binding domain, its dna binding ability is dependent on the other proteins with which it interacts. lmo1 expression is prominent in the central nervous system in both human and mouse. genome-wide association studies revealed a correlation between neuroblastoma and single nucleotide polymorphisms in lmo1 gene, such as rs1213248310, rs1396687970, 531017908.methods: we identified three missense single nucleotide polymorphisms in lmo1 gene (rs1213248310: thr116ile, rs1396687970: ala81asp, rs1490057229: met1ile), using dbsnp and then analyzed their effect on the protein structure and function using several databases such as sift, polyphen-2, and i-mutant.results: our results showed that these missense single nucleotide polymorphisms change the highly conserved amino acids, and have probably damaging effects on protein function (polyphen-2 scores: 0.694, 0.999, and0.965, respectively). the results of the mutation assay in the sift database, predict scores more than 0.05 for all three mentioned snps. i-mutant program, also, presented decrease of protein stability for all of them.conclusion: : based on results of the pathogenicity prediction and bioinformatics assessments, we suggest that these nucleotide changes as missense mutations have an important role in the development and/or progression of neuroblastoma.