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Fig. 2 | Human Genomics

Fig. 2

From: A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Fig. 2

Discovery of a maternally transmitted DDX3X variant in male ID. a Protein sequence alignment of DDX3X across vertebrate species; the mutated residue is shown by arrow. b Location of all functionally tested amino acid substitutions in DDX3X. Reported male alleles (top); alleles found in females (bottom). The helicase ATP-binding domain and a helicase C-terminal domain are also shown (green)

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Human Genomics

ISSN: 1479-7364