The Impact of Point Mutations on Protein Structure and Function: Case Studies of Sickle Cell Anemia and Cystic Fibrosis

Authors: Yousef A. Al-harbi, Alwaleed M. Almalki, Sultan A. Aldhabi, Fahad A. Altheyab

DOI: https://doi.org/10.5281/zenodo.13253579

Short DOI: https://doi.org/gt6bx9

Country: Saudi Arabia

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Abstract: Point mutations can significantly impact protein structure and function, leading to various genetic disorders. This study investigates the effects of two specific mutations: the sickle cell anemia β-globin mutation (GAG to GTG) and the ΔF508 mutation in the CFTR gene, on protein characteristics.

Keywords: Point mutations, β-globin, CFTR, sickle cell anemia, cystic fibrosis, protein structure, functional assays

Paper Id: 230953

Published On: 2023-10-15

Published In: Volume 11, Issue 5, September-October 2023

Cite This: The Impact of Point Mutations on Protein Structure and Function: Case Studies of Sickle Cell Anemia and Cystic Fibrosis - Yousef A. Al-harbi, Alwaleed M. Almalki, Sultan A. Aldhabi, Fahad A. Altheyab - IJIRMPS Volume 11, Issue 5, September-October 2023. DOI 10.5281/zenodo.13253579

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