Fig. 1: The human MIDEAS variant Y654S. | Nature Communications

Fig. 1: The human MIDEAS variant Y654S.

From: A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome

Fig. 1

a Schematic of the MIDEAS protein showing location of the ELM2 and SANT domains. b Density of missense variants across MIDEAS according to gnomAD V4.1.0. High density means more variants reported in that region. c Zoom-in on region surrounding Y654S, showing occurrence of gnomAD missenses (bar graph) and residue conservation across species. Homo sapiens MIDEAS (hs), Mus musculus MIDEAS (mm), Danio rerio MIDEAS (dr) and Caenorhabditis elegans SAEG-1 (ce). d and e Pictures depicting facial dysmorphisms and joint contractures, and pedigrees with respective genotypes for Probands 1 & 2, respectively.

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