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

Shruthi SudarshanManoj KumarPunit KaurAtin KumarSethuraman GSavita SapraSheffali GulatiNeerja GuptaMadhulika KabraMadhumita Roy Chowdhury

Published in: BMC medical genetics (2019)

In this study, an attempt has been made to assess the impact of each novel missense variant based on their TSC1-TSC2 hydrophobic interactions and its effect on protein function.

Keyphrases

copy number
intellectual disability
genome wide
molecular docking
autism spectrum disorder
ionic liquid
protein protein
gene expression
amino acid
small molecule
genome wide identification