1st International and 10th National Iranian Conference on Bioinformatics
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Investigation of CFTR: c.364T>A (p.Tyr122Asn) variant using in silico predictive tools
Paper ID : 1032-ICB10
Authors:
Keivan Moradi *, Sahand Khamooshian
Student Research Committee, Kermanshah University of Medical Sciences, Kermanshah, Iran
Abstract:
As a disorder with autosomal recessive (AR) inheritance, cystic fibrosis (CF) is caused by pathogenic variants in cystic fibrosis transmembrane conductance regulator (CFTR) gene. Therefore, it is necessary to classify the variants identified in this gene into pathogenic and non-pathogenic types. The aim of this study was to investigate the deleterious effect of CFTR: c.364T>A (p.Tyr122Asn) variant. To this end, ten in silico predictive tools were selected. Our results are shown in the table below; accordingly, CFTR: c.364T>A (p.Tyr122Asn) variant had deleterious effects on all in silico tools used by us. This variant was first reported by Iranome project (http://www.iranome.ir/) in a healthy individual with Lurish (Luri) ethnicity from Iran (in heterozygous form). Our search in the databases of LOVD, HGMD, dbSNP, ClinVar, gnomAD, 1KGP, CFTR1, and CFTR2 as well as in the google scholar did not reveal any other reports for CFTR: c.364T>A (p.Tyr122Asn) variant. In conclusion, with a threshold of deleterious effects in seven or more in silico predictive tools, this variant could be accepted as pathogenic. However, for its final classification, it is necessary to consider the other criteria provided by American College of Medical Genetics and Genomics (ACMG-AMP) guidelines.
PhD- SNPg PANTHER PSEP SNPs & GO FATHMM-XF I-Mutant Disease PolyPhen -2 PROVEAN Mutation Taster CADD SIFT # of tools with pathogenic prediction
Pathogenic Probably damaging Disease Pathogenic Disease Probably damaging Deleterious Disease causing 25 Damaging 10:10
Keywords:
Cystic fibrosis (CF); CFTR gene; In silico analysis
Status : Paper Accepted (Poster Presentation)