D76V, L161R, and C117S are the most pathogenic amino acid substitutions with several dangerous consequences on leptin structure, function, and stability

Abstract Background Leptin is a versatile hormone with a variety of functions, including regulation of food intake by inhibiting hunger. Any deleterious mutation in this protein can lead to serious consequences for the body. This study was conducted to identify the most deleterious non-synonymous si...

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Bibliographic Details
Main Author: Mohammed Baqur S. Al-Shuhaib
Format: Article
Language:English
Published: SpringerOpen 2019-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:https://doi.org/10.1186/s43042-019-0033-2