An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach

An integrative analysis of functional consequences of PKD2 missense variants on RNA and protein structures: a computational approach

Abstract Background The PKD2, encoding polycystin-2 (PC2) protein, is second major genetic determinant of autosomal dominant polycystic kidney disease (ADPKD) after PKD1. However, the structural and functional consequences of genetic variants in PKD2 remain poorly understood. Given the complexity an...

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Bibliographic Details
Main Authors: Chandra Devi, Prashant Ranjan, Parimal Das
Format: Article
Language:English
Published: SpringerOpen 2024-11-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
PKD2
RNA structure
Protein structural dynamics
Missense variants
Molecular dynamics simulation
ADPKD
Online Access:https://doi.org/10.1186/s43042-024-00593-4
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https://doi.org/10.1186/s43042-024-00593-4

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