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GNE mutations (GenBank NM_005476) resulting in HIBM (white background) or sialuria (gray background)
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aGray shaded; severe mutations, likely resulting in nonsense mediated RNA decay and limited GNE/MNK protein expression.
bGNE/MNK amino acid residues 1–378 are suggested to regulate epimerase enzymatic activity, and residues 410–722 regulate kinase enzymatic activity (Effertz et al. 1999).
