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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly

Fig. 2

Functional testing of NAA10-R83H. MBP-NAA10 fusion proteins (wild-type (WT) or R83H) were tested for in vitro NAT activity against substrate peptides with indicated N-termini a or against EEEIA-peptide for the indicated reaction times c. Sequences of the peptide substrates are EEEIAALRWGRPVGRRRRPVRVYP, DDDIAALRWGRPVGRRRRPVRVYP, MLGPEGGRWGRPVGRRRRPVRVYP, and SESSSKSRWGRPVGRRRRPVRVYP (bold indicating the variable N-termini of the peptides, while the rest of the peptide sequence is identical between them). b Structure of the human NAA10 protein (PDB ID: 6C9M) superimposed on the substrate from the Schizosaccharomyces pombe NAA10 structure (4KVM) Substrate peptide (SASE) is shown in green, while the mutation site Arg83 is shown in red. CoA is shown as a licorice model colored according to element. d Multiple sequence alignment of NAA10 from Homo sapiens, Mus musculus, Rattus norvegicus, Xenopus laevis, Danio rerio, and Saccharomyces cerevisiae. Conservation score is calculated by Jalview (http://www.jalview.org/), with * signifying perfect conservation

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