An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65

• Main Authors: Giulio Poli (Author), Gian Carlo Demontis (Author), Andrea Sodi (Author), Alessandro Saba (Author), Stanislao Rizzo (Author), Marco Macchia (Author), Tiziano Tuccinardi (Author)
• Format: Book
• Published: Taylor & Francis Group, 2023-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

hRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range of diseases. Many hRPE65 missense mutations lack a clear pathogenicity classification or are labelled as VUS. In this context, we recently de...