Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture.

ABSTRACT:

Background

Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation. While, the only well-established functional domain in the NF1 protein is the GAP-related domain (GRD), most of the identified non-truncating disease-causing variants are located outside of this domain, supporting the existence of other important disease-associated domains. Identifying these domains may reveal novel functions of NF1.

Methods

By implementing inferential statistics combined with machine-learning methods, we developed a novel NF1-specific functional prediction model that focuses on nonsynonymous single nucleotide var

SUBMITTER: Isakov O 

PROVIDER: S-EPMC6197713 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature