In Silico survey of functional coding variants in human AEG-1 gene

• Published in: The Egyptian journal of medical human genetics Vol. 14; no. 4; pp. 419 - 422
• Main Authors: Naderi, Malihe, Gharaei, Roghaye, Soleymani-Nejadian, Ehsan, Samadian, Esmaeil
• Format: Journal Article
• Language: English
• Published: Cairo, Egypt Elsevier B.V 01.10.2013; Egyptian Society of Human Genetics; Springer Nature B.V
• Subjects: AEG-1; Astrocytes; Functional impacts; Genetic polymorphisms; Non-synonymous SNP; Functional impacts; Non-synonymous SNP; AEG-1
• ISSN: 1110-8630; 2090-2441
• DOI: 10.1016/j.ejmhg.2013.08.002

Non-synonymous (ns)SNPs represent typical genetic variations that may potentially affect the structure or function of expressed proteins and therefore could have an impact on complex disorders. A computational-based (In Silico) analysis has been done to evaluate the phenotypic effect of nsSNPs in human Astrocyte elevated gene-1 (AEG-1), a newly identified candidate in multiple cancers. We provide a list of all nsSNPs located in human AEG-1 gene from SNP database. SIFT (Sorting Intolerant From Tolerant), PolyPhen (Polymorphism phenotyping) and FastSNP programs were used in our study. Out of 32 nsSNPs, alteration rs150644674 (A14V) was predicted to be the most deleterious by both SIFT and PolyPhen servers and nsSNP prioritization by FastSNP software showed that rs1128828 and rs11542044 missenses could have a splicing regulatory role. Besides, functionality of the substitution of rs1128828 (V187F) was predicted by all our used tools. It could be concluded that these intolerant changes may lie within a functional region of the protein and may affect the stability and folding of AEG-1. These variants are reagents for further protein function and molecular epidemiology studies of cancer susceptibility.