title: Is mitochondrial tRNA Cys G5821A a deleterious mutation?
abstract: Although there are increasing reports showed a positive link between mitochondrial tRNACys G5821A mutation and mitochondrial diseases. However, its role remained controversial. In this paper, we took a comprehensive data analysis concerning this mutation and clinical diseases. Our data indicated that this mutation lacked an evolutionary conservation and did not get involved in the thermodynamic change of tRNACys gene. Therefore, based on these observations, we proposed that G5821A mutation is not deleterious mutation.
authors.affiliation: The First Affiliated Hospital of Henan University of Science and Technology , Luoyang , China.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Wei
authors.forename: Wengen
authors.initials: W
authors.lastname: Gao
authors.forename: Yafei
authors.initials: Y
authors.lastname: Ma
authors.forename: Quanxing
authors.initials: Q
authors.lastname: Cao
authors.forename: Xianfen
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000818:Animals; D050259:Genes, Mitochondrial; D006801:Humans; D008322:Mammals / Q000235:genetics; D017354:Point Mutation; D012350:RNA, Transfer, Cys / Q000235:genetics*
chemical_list: D012350:RNA, Transfer, Cys
keywords: Deafness; deleterious; mtDNA mutation