Article
Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population.
Journal of biomolecular structure & dynamics - 1 Jan 2022
Moeez Sadaf, Khalid Sumbul, Shaeen Sania, Khalid Madiha, Zia Asima, Gul Asma, Niazi Rauf, Khalid Zoya
Abstract excerpt
This study conducted an in-depth analysis combining computational and experimental verifications of the deleterious missense mutations associated with the SLC29A4 protein. The functional annotation of the non-synonymous single nucleotide polymorphism (nsSNPs), followed by structure-function analysis, revealed 13 single nucleotide polymorphisms (SNP) as the most damaging. Among these, six mutants P429T/S, L144S,...
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