Functional and Structural Features of Disease-Related Protein Variants.

ABSTRACT: Modern sequencing technologies provide an unprecedented amount of data of single-nucleotide variations occurring in coding regions and leading to changes in the expressed protein sequences. A significant fraction of these single-residue variations is linked to disease onset and collected in public databases. In recent years, many scientific studies have been focusing on the dissection of salient features of disease-related variations from different perspectives. In this work, we complement previous analyses by updating a dataset of disease-related variations occurring in proteins with 3D structure. Within this dataset, we describe functional and structural features that can be of interest for characterizing disease-related variations, including major chemico-physical properties, the streng

SUBMITTER: Savojardo C 

PROVIDER: S-EPMC6479756 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature