Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.

ABSTRACT:

Purpose

The retina-specific ABCA transporter, ABCA4, plays an essential role in translocating retinoids required by the visual cycle. ABCA4 genetic variants are known to cause a wide range of inherited retinal disorders, including Stargardt disease and cone-rod dystrophy. More than 1,400 ABCA4 missense variants have been identified; however, more than half of these remain variants of uncertain significance (VUS). The purpose of this study was to employ a predictive strategy to assess the pathogenicity of ABCA4 variants in inherited retinal diseases using protein modeling and computational approaches.

Methods

We studied 13 clinically well-defined patients with ABCA4 retinopathies and identified the presence of 10 missense variants, including one no

SUBMITTER: Cevik S 

PROVIDER: S-EPMC10784225 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature