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Fig. 2

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Publication: Matheny-Rabun et al., 2026 - Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism
All Figures: Figures for Matheny-Rabun et al., 2026

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Fig. 2 The RPS4X missense variants found in individuals 1–6 are predicted to be pathogenic.
A Alignment of RPS4X sequences from multiple vertebrate organisms show a high degree of conservation. B Protein tolerance landscape show the 4 variants reported here occur in important functional domains and regions intolerant to variation¹². Landscape image exported from https://stuart.radboudumc.nl/metadome/method. C The Alpha Missense tool predicts most variants across the coding sequence to be pathogenic. D The schematic represents the predicted protein structure of RPS4X with the reported variants indicated. This suggests the variants are all present in outward-facing regions of functional domains. The Encyclopedia of Domains¹³ domains are highlighted. Protein structure was exported from Uniprot; AlphaFold DB Q96IR1.

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