Predicting the effect of CFTR: c.۴۱۳۹C>T (p.Thr۱۳۸۰Ile) missense variant using in silico predictive tools

Mutations in cystic fibrosis transmembrane conductance regulator (CFTR) gene have been known to cause Cystic fibrosis (CF), a life-threatening disorder, for many years [۱]. Therefore, identifying new CFTR gene variants and investigating their impacts on the protein product is of great importance. This issue encouraged us to investigate the deleterious effect of CFTR: c.۴۱۳۹C>T (p.Thr۱۳۸۰Ile) missense variant using ten in silico predictive tools including PhD- SNPg,PANTHER PSEP, SNPs & GO, FATHMMXF, I-Mutant Disease, PolyPhen-۲, PROVEAN, Mutation Taster, CADD, and SIFT was reported in dbSNP (SNP ID:rs۱۴۶۴۴۵۵۳۶۶), to the best of our knowledge, there are no other reports in the literature scientific reports as well as in the LOVD, HGMD, CFTR۱, and CFTR۲ publicdatabases. In addition, no clinical significance was reported in ClinVar database. In conclusion, with a threshold of deleterious effects in seven or more in silicopredictive tools, CFTR: c.۴۱۳۹C>T (p.Thr۱۳۸۰Ile) variant could be accepted as a pathogenic variant. 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 [۲].

کلیدواژه ها:

Cystic fibrosis (CF) ، CFTR gene ، In silico analysis.