Comput Math Methods Med - Analyzing effects of naturally occurring missense mutations.

Tópicos

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Resumo

Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not. This paper focuses on genetic mutations resulting in a change in the amino acid sequence of the corresponding protein and how to assess their effects on protein wild-type characteristics. The existing methods and approaches for predicting the effects of mutation on protein stability, structure, and dynamics are outlined and discussed with respect to their underlying principles. Available resources, either as stand-alone applications or webservers, are pointed out as well. It is emphasized that understanding the molecular mechanisms behind these effects due to these missense mutations is of critical importance for detecting disease-causing mutations. The paper provides several examples of the application of 3D structure-based methods to model the effects of protein stability and protein-protein interactions caused by missense mutations as well.

Resumo Limpo

singlepoint mutat genom exampl singlenucleotid polymorph snp rare genet mutat chang singl nucleotid anoth genom sequenc will produc amino acid substitut correspond protein sequenc missens mutat other will paper focus genet mutat result chang amino acid sequenc correspond protein assess effect protein wildtyp characterist exist method approach predict effect mutat protein stabil structur dynam outlin discuss respect under principl avail resourc either standalon applic webserv point well emphas understand molecular mechan behind effect due missens mutat critic import detect diseasecaus mutat paper provid sever exampl applic d structurebas method model effect protein stabil proteinprotein interact caus missens mutat well

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