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. 2021 Feb 9;128(8):1156–1169. doi: 10.1161/CIRCRESAHA.120.316966

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© 2021 The Authors.

Circulation Research is published on behalf of the American Heart Association, Inc., by Wolters Kluwer Health, Inc. This is an open access article under the terms of the Creative Commons Attribution Non-Commercial-NoDerivs License, which permits use, distribution, and reproduction in any medium, provided that the original work is properly cited, the use is noncommercial, and no modifications or adaptations are made.

This article is made available via the PMC Open Access Subset for unrestricted re-use and analyses in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the COVID-19 pandemic or until permissions are revoked in writing. Upon expiration of these permissions, PMC is granted a perpetual license to make this article available via PMC and Europe PMC, consistent with existing copyright protections.

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Figure 1. — NAA15 variants discovered in patients with congenital heart disease patients. A, Schematic diagram of the NAA15 (N-alpha-acetyltransferase 15) gene. The NAA15 gene consists of tetracopeptide repeats (blue) essential for interaction with the NatA (N-terminal acetyltransferase) complex subunit NAA10 and a HYPK (Huntingtin interacting protein K) interacting domain at the C terminus. Location of variants identified in patients with congenital heart disease (CHD; loss of function [LoF] variants are underlined) and CRISPR/Cas9-derived variants in induced pluripotent stem cell (iPSCs; magenta) are shown. B, The subunit composition of NatA and NatE complexes. NAA15 is the auxiliary unit for both complexes. C, Table of cardiovascular and neuronal clinical phenotypes of patients with CHD. *indicates LoF variants.