Abstract
The ApoE gene responsible for the Alzheimer's disease has been examined to identify functional consequences of single-nucleotide polymorphisms (SNPs). Eighty-eight SNPs have been identified in the ApoE gene in which 31 are found to be nonsynonymous, 8 of them are coding synonymous, 33 are found to be in intron, and 3 are in untranslated region. The SNPs found in the untranslated region consisted of two SNPs from 5′ and one SNP from the 3′. Twenty-nine percent of the identified nsSNPs have been reported as damaging. In the analysis of SNPs in the UTR regions, it has been recognized that rs72654467 from 5′ and rs71673244 from 5′ and 3′ are responsible for the alteration in levels of expression. Both native and mutant protein structures were analyzed along with the stabilization residues. It has been concluded that among all SNPs of ApoE, the mutation in rs11542041 (R132S) has the most significant effect on functional variation.
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Namboori, P.K.K., Vineeth, K.V., Rohith, V. et al. The ApoE gene of Alzheimer's disease (AD). Funct Integr Genomics 11, 519–522 (2011). https://doi.org/10.1007/s10142-011-0238-z
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DOI: https://doi.org/10.1007/s10142-011-0238-z