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EC Number Protein Variants Commentary Reference
Show all pathways known for 1.7.1.7Display the word mapDisplay the reaction diagram Show all sequences 1.7.1.7C186A site-directed mutagenesis, a catalytically inactive mutant, overexpression of GMPRC186A mutant at levels comparable to overexpression of wild-type GMPR does not affect invasion in of melanoma cells 742245
Show all pathways known for 1.7.1.7Display the word mapDisplay the reaction diagram Show all sequences 1.7.1.7C318A inactive -, 765448
Show all pathways known for 1.7.1.7Display the word mapDisplay the reaction diagram Show all sequences 1.7.1.7D219A the mutant shows reduced affinities for substrate and cofactor compared to the wild type enzyme 764149
Show all pathways known for 1.7.1.7Display the word mapDisplay the reaction diagram Show all sequences 1.7.1.7G183R the variant causes aberrant splicing, decreased enzyme protein levels in skeletal muscle of patient with autosomal dominant progressive external ophthalmoplegia, proliferating and quiescent cells, and is associated with subtle changes in nucleotide homeostasis protein levels and evidence of disturbed mitochondrial DNA maintenance in skeletal muscle 764517
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