Article

Systematic analysis of naturally occurring missense mutations in human manganese transporters: prediction and structural insights

2025-09-10

Abstract excerpt

Manganese (Mn) homeostasis in humans is tightly regulated by the transporters ZIP8, ZIP14, and ZnT10, and pathogenic mutations in these proteins cause systemic Mn dysregulation, leading to severe disorders in multiple systems. Here, we performed a systematic survey of naturally occurring missense variants in these transporters. Pathogenicity was assessed with two widely used computational tools, CADD and AlphaMiss...

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Literature Corpus work: 8531af6f-9f7e-54e8-b526-c7ee2d4882e9
DOI: 10.1101/2025.09.09.675244

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