Some Mendelian Disorders could be fixed with a pill? A Structural Bioinformatic investigation

Abstract excerpt

It has been recently suggested that amino acid replacements with Gly can modify the shape of protein surfaces and, hence, protein dynamics and functions. We have browsed ClinVar, the database of all the reported variants of clinical relevance, to identify all the proteins having missense X/Gly mutations that determine Mendelian disorders. We have found 959 benign and 875 pathogenic X/Gly substitutions. Pathogenici...

Topics

Open a Topic to create a Post that cites this publication.

• Amino Acids
• Computational Biology
• Mutation
• Mutation, Missense
• Protein Folding
• Protein Stability
• Proteins
• Thermodynamics

Identifiers and source

Literature Corpus work

6b711e4d-dd75-5ccf-8b30-e3ee90438ef0

DOI

10.1101/2022.10.20.513070