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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

Fig. 2

NAA10 multiple sequence alignment and structural analysis. a Multiple sequence alignment of NAA10 orthologues. Amino acid conservation is shown in red and secondary structure was based on the human NatA structure (PDB ID: 6C9M). b Human NatA structure (PDB ID: 6C9M) with Ac-CoA from S. pombe NAA10 structure (PDB ID: 4KVX). NAA15 is shown in teal, NAA10 is shown in grey, and IP6 and Ac-CoA are shown as sticks colored by atom. His16 (purple) is located in NAA10 α1 helix and was predicted by PyMOL to interact with IP6 and Trp486 of NAA15 (indicated by black dots). c The His16Pro mutation was predicted by DynaMut to increase structure flexibility (red) in the NAA10 α1 helix

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BMC Medical Genetics

ISSN: 1471-2350

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