Is mitochondrial tRNA Cys G5821A a deleterious mutation?

Lijuan Wei, Wengen Gao, Yafei Ma, Quanxing Cao, Xianfen Zhang

Mitochondrial DNA 2015 Apr

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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.

Citation

Lijuan Wei, Wengen Gao, Yafei Ma, Quanxing Cao, Xianfen Zhang. Is mitochondrial tRNA Cys G5821A a deleterious mutation? Mitochondrial DNA. 2015 Apr;26(2):202-4