Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics

Mutations associated with MPZ leads to severe de-hypomyelination Dejerine-Sottas syndrome type B (DSSB) also termed as Charcot-Marie-Tooth disease (CMT) type 3. In this work, we employed used various insilico prediction methods to screen 97 nsSNPs with MPZ and found I30T and I30M substitution to be most deleterious and pathogenic associated with DSSB. To get more insight into the mutational effect, we utilised homology moedlling to model wild type as well as mutant structures of MPZ protein using Modeler 9.13 software. Molecular dynamics simulation was initiated to explain the mechanism of the impact of mutation on its structure and function.