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EC Number
Protein Variants
Commentary
Reference
1.7.1.7
C186A
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
1.7.1.7
C318A
inactive
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,
765448
1.7.1.7
D219A
the mutant shows reduced affinities for substrate and cofactor compared to the wild type enzyme
764149
1.7.1.7
G183R
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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