Extended Data Fig. 4: De novo mutations in CTNNB1 encoding β-catenin. | Nature Genetics

Extended Data Fig. 4: De novo mutations in CTNNB1 encoding β-catenin.

From: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Extended Data Fig. 4: De novo mutations in CTNNB1 encoding β-catenin.The alternative text for this image may have been generated using AI.

a, CTNNB1 functional domain with location of previously reported pathogenic variants (red) and those identified in this work (black). (Given the loss-of-function nature of the identified variants, phylogenetic alignments were not performed; however, 100% identify is seen at these loci (p.E54, p.F99, and p.R449) in primates). b, Sanger-verified mutated base (red arrow) with corresponding reference bases. c, Brain MRI (F066) was unremarkable. Conserved Domain Annotations: ARM, Armadillo/beta-catenin-like repeats from UniProtKB/Swiss-Prot (P35222.1); SCRIB, interaction with SCRIB (AA 772-781, by similarity, experimental evidence); BCL9, interaction with BCL9 (AA 156-178, by similarity, experimental evidence); VCL, interaction with VCL (AA 2-23, by similarity, experimental evidence).

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