Deep learning-based assessment of missense variants in the gene presented with bilateral congenital cataract.

Journal: BMJ open ophthalmology
PMID:

Abstract

OBJECTIVE: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.

Authors

  • Binghe Xiao
    Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
  • Shaohua Zhang
    Agronomy College of Henan Agriculture University/State Key Laboratory of Wheat and Maize Crop Science, Zhengzhou 450046, Henan, China.
  • Maierdanjiang Ainiwaer
    Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
  • Houyi Liu
    Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
  • Li Ning
    Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
  • Yingying Hong
    Department of Biology, School of Fisheries and Life Sciences, Shanghai Ocean University, Shanghai, 201306, China.
  • Yang Sun
    Department of Gastroenterology, First Affiliated Hospital of Kunming Medical University, Kunming, China.
  • Yinghong Ji
    Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China jiyh_eent@163.com.