2.3.1.255	A6P	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	
2.3.1.255	E157K	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	
2.3.1.255	E24A	mutation in NatA, decrease in kcat, increase in Km value	736866	
2.3.1.255	E24D	mutation in NatA, decrease in kcat, increase in Km value	736866	
2.3.1.255	E24Q	mutation in NatA, decrease in kcat, increase in Km value	736866	
2.3.1.255	E61A	mutation in NatA, decrease in kcat, increase in Km value	736866	
2.3.1.255	E62A	mutation in NatA, decrease in kcat, increase in Km value	736866	
2.3.1.255	F128I	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	
2.3.1.255	F128L	NAA10 variant c.384T>G has been identified in a boy with mixed specific developmental disorder	777587	
2.3.1.255	F128L	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