Decoding of novel missense TSC2 gene variants using in-silico methods.

ABSTRACT: BACKGROUND:Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene products form TSC heterodimer that senses specific cell growth conditions to control mTORC1 signalling. METHODS:In the present study 98 TSC patients were tested for variants in TSC1 and TSC2 genes and 14 novel missense variations were identified. The pathogenecity of these novel variations was determined by applying different bioinformatics tools involving computer aided protein modeling. RESULTS:Protein modelling could be done only for ten variants which were within the functional part of the protein. Homology modeling is the most reliable method for structure prediction of a

SUBMITTER: Sudarshan S 

PROVIDER: S-EPMC6815426 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature