Article
Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.
Human mutation - 1 Jan 2026
Kousar Rizwana, Latif Sadia, Alharthi Mohammed Turki Hussain, Tabassum Sidra, Khan Muzammil Ahmad, Alayoubi Abdulfatah M, Qarmali Morad, Latif Muhammad
Abstract excerpt
Background: The microcephalin 1/BRITI1 (MCPH1) gene has been implicated in microcephaly (MCPH), primary ciliary dyskinesia (PCD) syndrome, enlarged cranial volume, and pancreatic and breast cancers. It functions as a tumor suppressor and shows reduced expression in various cancer types. Therefore, the identification of MCPH1 polymorphisms is of paramount importance. Aims and Objectives: Considering the...
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- Humans
- Polymorphism, Single Nucleotide
- Cytoskeletal Proteins
- Nerve Tissue Proteins
- Computer Simulation