Golestan University of Medical Sciences Repository

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

Naderi, M. and Gharaei, R. and Soleymani-Nejadian, E. and Samadian, E. (2013) In Silico survey of functional coding variants in human AEG-1 gene. Egyptian Journal of Medical Human Genetics, 14 (4). pp. 419-422. ISSN 11108630 (ISSN)

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Abstract

Background and aims: 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. Materials and methods: 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. Results: 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. Conclusions: 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. © 2013.

Item Type: Article
Additional Information: Unmapped bibliographic data: LA - English [Field not mapped to EPrints] J2 - Egypt. J. Med. Hum. Genet. [Field not mapped to EPrints] AD - Department of Microbiology, Qom branch, Islamic Azad University, Qom 37185-364, Iran [Field not mapped to EPrints] AD - Department of Clinical Biochemistry, Faculty of Medicine, Golestan University of Medical Sciences, Golestan, Iran [Field not mapped to EPrints] AD - Microbiology Lab, Institute of Forest Protection, Nanjing Forestry University, Longpan Road 159, 210037 Nanjing, China [Field not mapped to EPrints] AD - Department of Molecular Medicine, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Golestan, Iran [Field not mapped to EPrints] DB - Scopus [Field not mapped to EPrints]
Uncontrolled Keywords: AEG-1, Functional impacts, Non-synonymous SNP, amino acid sequence, article, astrocyte elevated gene 1, computer model, gene, genetic code, genetic variability, human, missense mutation, phenotype, single nucleotide polymorphism
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
موارد کلی
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 18 Apr 2015 03:54
Last Modified: 10 May 2015 10:03
URI: http://eprints.goums.ac.ir/id/eprint/1825

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