Bioinformatics Profiling of Missense Mutations
作者： I. Nassiri , M. Tavassoli , B. Goliaei
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摘要: Abstract — The ability to distinguish missense nucleotide substitutions that contribute harmful effect from those do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of mutations upon protein structure and function were assayed by means computational methods information databases. For order, new exon 5 PTEN gene examined. coding for was identified localized on chromosome region 10q23.3 as tumor suppressor gene. utilization these shown c.319G>A c.341T>G recognized patients with breast cancer Cowden disease, could be pathogenic. This method use analysis mutation others genes. Keywords Bioinformatics, mutations,
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