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Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases

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Abstract

Copper-transporting ATPase 1 and 2 (ATP7A and ATP7B) are two highly homologous P-type copper ATPase exporters. Mutations in ATP7A can lead to Menkes disease which is an X-linked disorder of copper deficiency. Mutations in ATP7B can cause Wilson disease which is an autosomal recessive disorder of copper toxicity. In this study, we attempt to build a quantitative relationship between mutated ATPase and Menkes/Wilson disease. First, we use the amino-acid distribution probability as a measure to quantify the difference in ATPase before and after mutation. Second, we use the cross-impact analysis to define the quantitative relationship between mutant ATPase protein and Menkes/Wilson disease, and compute various probabilities. Finally, we use the Bayesian equation to determine the probability that Menkes/Wilson disease is diagnosed under a mutation. The results show (i) the vast majority of mutations lead to the amino-acid distribution probability increase in mutant ATP7As and decrease in ATP7Bs, and (ii) the probability that a mutation causes Menkes/Wilson disease is about nine tenth. Thus we provide a way to use the descriptively probabilistic method to couple the mutation with its clinical outcome after quantifying mutations in proteins.

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  1. Guangxi Academy of Sciences, 98 Daling Road, Nanning, Guangxi, 530007, China

    Shaomin Yan

  2. Computational Mutation Project, DreamSciTech Consulting, 301, Building 12, Nanyou A-zone, Jiannan Road, Shenzhen, Guangdong Province, 518054, China

    Guang Wu

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Yan, S., Wu, G. Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases. Mol Divers 12, 119–129 (2008). https://doi.org/10.1007/s11030-008-9084-x

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