Extended Data Fig. 3: De novo mutation in TUBA1A encoding α-tubulin. | Nature Genetics

Extended Data Fig. 3: De novo mutation in TUBA1A encoding α-tubulin.

From: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Extended Data Fig. 3: De novo mutation in TUBA1A encoding α-tubulin.The alternative text for this image may have been generated using AI.

a, TUBA1A functional domains schematic with locations of previously-described pathogenic variants (red) compared to those from this work (black). b, Phylogenetic conservation of reference amino acid at each mutated position described in this work. c, Sanger-verified mutated base (red arrow) with the corresponding reference bases. d, MRI of the brain (F356) demonstrates evidence of bilateral perisylvian pachygyria (blue arrows). Conserved Domain Annotations: TNBDL (AA 1-244) as IPro36525; SD (AA 418-451) annotated as per39.

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