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. Author manuscript; available in PMC: 2022 May 29.
Published in final edited form as: Nat Genet. 2020 Sep 28;52(10):1046–1056. doi: 10.1038/s41588-020-0695-1

Extended Data Fig. 6 |. De novo mutations in SPAST encoding spastin.

Extended Data Fig. 6 |

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.