Identification of the most damaging nsSNPs in the human CFL1 gene and their functional and structural impacts on cofilin-1 protein

Gene(2022)

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摘要
•The human CFL1 gene encodes non-muscle cofilin which regulates actin-induced motility through the assembly/disassembly.•Mutations in cofilin inhibit the normal cofilin–actin rod production in response to stress that is implicated in the development of neurodegenerative diseases, and neuronal migration disorders.•Various sequence and homology based tool was used to identify the most damaging nsSNPs in the human CFL1 gene and their physicochemical and structural effect was studied computationally.•The result suggested that SNPs resulting in L84P (rs199716082) and L99A (rs267603119) variants represent significant CFL1 mutations associated with disease development.•This study could represent a potential data source for future research examining n-cofilin/cofilin-1, particularly the contributions of protein mutations to NTD development.
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关键词
CFL1,Nonsynonymous SNPs (nsSNPs),Molecular dynamic simulation,Actin-depolymerizing factor/Cofilin family,Neural tube closure defects
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