Extended Data Fig. 6: De novo mutations in SPAST encoding spastin.
From: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
a, SPAST functional domains with ___location of CP-associated damaging variants identified in this study (black); 277 pathological mutations58 have previously been identified in SPAST with the majority (82%) located within the conserved domains (red). 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 (F082) showed mild subcortical T2 hyperintensities (blue arrows). Conserved Domain Annotations: MIT (AA 116-196) as CDD:239142; Microtubule Binding ___domain (AA 270-328) from UniProtKB/Swiss-Prot (Q9UBP0.1); ATPase AAA Core and Lid domains (378-567) from IPR003959 and IPR041569, respectively.
