Figure 1 | European Journal of Human Genetics

Figure 1

From: De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

Figure 1

(a) Genomic position and domain structure of the NAA10 gene with positions of the herein described de novo variants (Exon 5/6) and the previously reported Ogden syndrome variant (Exon 2). Exons are numbered after NM_003491.3. The domain structure is based on the NCBI reference sequence NP_003482 and the recently described crystal structure of the NatA complex.23 (b, c) Pedigrees of the two singleton families and results of Sanger validation. (d) Amino-acid sequence alignment of Naa10 orthologs at the de novo variant positions shows high sequence conservation. (e) Amino-acid sequence alignment of Naa10 and known human NATs shows conservation of the N-acetyltransferase domain part containing the de novo variants. Protein sequences were obtained from the UCSC Genome Browser,34 and T-Coffee55 was used for alignment.

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