Extended Data Fig. 7: De novo mutations in DHX32 encoding the DEAH box polypeptide 32.
From: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
a, DHX32 functional domains with ___location of CP-associated damaging variants from this work (black). Germline DHX32 variants have not been previously associated with human disease although somatic variants (>40) have been associated with variants cancers (COSMIC). b, Phylogenetic conservation of wild-type amino acid at each mutated position. c, Sanger-verified mutated base indicated by red arrow with corresponding reference bases. d, Brain MRI (F063) showed diffusely diminished cortical volume. Conserved Domain Annotations: Helicase and DEAD domains overlap (72-378 and 146-403) from IPR014001 and cd17912, respectively; HA2 ___domain (AA 458-547) as IPR007502; Helicase associated ___domain of unknown function (AA 616-696) from IPR011709.
