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EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255A6P NAA10 variant c.16G>C has been identified in a male with intelectual disability and hypertrophic cardiomyopathy. A6P protein is highly reduced in its capacity to form the NatA complex, and displays a moderate reduction in monomeric NAA10 N-acteyltransferase function 777587
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255E157K NAA10 variant c.469G>A has been identified in a baby girl with cerebellar vermian hypoplasia with cystic dilatation of the 4th ventricle, a left pneumothorax and a heart murmur. Mutation does not impair NAA10-NAA15 binding and displays a moderate reduction in monomeric NAA10 N-acteyltransferase function 777587
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255E24A mutation in NatA, decrease in kcat, increase in Km value 736866
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255E24D mutation in NatA, decrease in kcat, increase in Km value 736866
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255E24Q mutation in NatA, decrease in kcat, increase in Km value 736866
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255E61A mutation in NatA, decrease in kcat, increase in Km value 736866
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255E62A mutation in NatA, decrease in kcat, increase in Km value 736866
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255F128I site-directed mutagenesis, the mutation leads an altered structure and reduced stability, and a dramatic recuction of Nt catalytic activity compared to wild-type 756675
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255F128L NAA10 variant c.384T>G has been identified in a boy with mixed specific developmental disorder 777587
Display the word mapDisplay the reaction diagram Show all sequences 2.3.1.255F128L site-directed mutagenesis, the mutation leads an altered structure and reduced stability, and a dramatic recuction of Nt catalytic activity compared to wild-type 756675
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