Influence of rs1800172 common gene variation on the structure and function of potassium voltage-gated channel subfamily Q member 1

The proper functioning of ion channels is essential for cell survival. One of the important ion channels is potassium voltage-gated channel subfamily Q member 1 (KCNQ), which consists of five genes whose main gene is KCNQ1 and encodes the voltage-gated potassium channel required for the phase of repolarization. KCNQ1 is mainly expressed in the heart muscle, inner ear, stomach, lungs, kidneys, intestines, and pancreas. This channel is essential for the proper functioning of cells in some organs of the body, including the heart and stomach. Thus, mutations and polymorphisms in this gene can alter the risk of some diseases, such as long QT syndrome and gastric cancer. The aim of this study was to investigate the effect of rs1800172 exon polymorphism on the function of the KCNQ1 gene using a bioinformatics approach. The ProtParam server was used to evaluate the primary structure of the protein. The PredictProtein server was used to investigate the effect of mutations on the secondary structure of the protein. Polyphen2 and SNAP2 servers were used to evaluate the effect of rs1800172 variety on overall protein structure and function. RNAsnp online software was used to investigate the effect of mutation on mRNA structure. Our study showed that rs1800172 polymorphism affects the primary and secondary structure of proteins. But this genetic variety did not affect mRNA structure. Investigation of the effect of KCNQ1 gene mutations including rs1800172 can be effective in identifying the pathological mechanisms of KCNQ1.