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Article

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

BMJ open ophthalmology - 14 Jan 2025

Xiao Binghe, Zhang Shaohua, Ainiwaer Maierdanjiang, Liu Houyi, Ning Li, Hong Yingying, Sun Yang, Ji Yinghong

Abstract excerpt

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 and three pre-existing p.G512R, p.R729W and p.L769R from Uniprot Q9H9E3) were imported into AF2 for protein...

Read the complete abstract on PubMed

Topics

Mutation, Missense
Humans
Cataract
Deep Learning
Male
Female
Phenotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

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Identifiers

PMID: 39809522
DOI: 10.1136/bmjophth-2024-001906
PMCID: PMC11751923

Genes

COG4

Provenance

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