Initial Investigations of Intrinsically Disordered Regions in Inherited Retinal Diseases.

ABSTRACT: Intrinsically disordered regions (IDRs) are protein regions that are unable to fold into stable tertiary structures, enabling their involvement in key signaling and regulatory functions via dynamic interactions with diverse binding partners. An understanding of IDRs and their association with biological function may help elucidate the pathogenesis of inherited retinal diseases (IRDs). The main focus of this work was to investigate the degree of disorder in 14 proteins implicated in IRDs and their relationship with the number of pathogenic missense variants. Metapredict, an accurate, high-performance predictor that reproduces consensus disorder scores, was used to probe the degree of disorder as a function of the amino acid sequence. Publicly available data on gnomAD and ClinVar was used to

SUBMITTER: Lee KE 

PROVIDER: S-EPMC9861917 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature