FIGURE

Fig. 2

ID

ZDB-FIG-260623-23

Publication

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

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ NPJ Genom Med