Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract

Deep learning–based assessment of missense variants in the COG4 gene presented with bilateral congenital cataract

Objective We compared the protein structure and pathogenicity of clinically relevant variants of the COG4 gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.Methods and analysis The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F...

Full description

Saved in:
Bibliographic Details
Main Authors: Shaohua Zhang, Yang Sun, Yinghong Ji, Li Ning, Binghe Xiao, Maierdanjiang Ainiwaer, Houyi Liu, Yingying Hong
Format: Article
Language:English
Published: BMJ Publishing Group 2025-01-01
Series:BMJ Open Ophthalmology
Online Access:https://bmjophth.bmj.com/content/10/1/e001906.full
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items