In silico survey of functional coding variants in human AEG-1 gene
Joint Authors
Samadian, Ismail
Gharaei, Roghayeh
Nejadian, Ihsan Sulaymani
Naderi, Malihe
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 4 (31 Oct. 2013), pp.419-422, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-10-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Naderi, Malihe& Gharaei, Roghayeh& Nejadian, Ihsan Sulaymani& Samadian, Ismail. 2013. In silico survey of functional coding variants in human AEG-1 gene. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 4, pp.419-422.
https://search.emarefa.net/detail/BIM-360697
Modern Language Association (MLA)
Naderi, Malihe…[et al.]. In silico survey of functional coding variants in human AEG-1 gene. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 4 (Oct. 2013), pp.419-422.
https://search.emarefa.net/detail/BIM-360697
American Medical Association (AMA)
Naderi, Malihe& Gharaei, Roghayeh& Nejadian, Ihsan Sulaymani& Samadian, Ismail. In silico survey of functional coding variants in human AEG-1 gene. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 4, pp.419-422.
https://search.emarefa.net/detail/BIM-360697
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 422
Record ID
BIM-360697