Skip to main content
. 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. 5 |. De novo mutations in ATL1 encoding atlastin-1.

Extended Data Fig. 5 |

a, ATL1 functional domain with location of previously reported variants (red) as well as those identified in this work (black). b, Phylogenetic conservation of reference amino acid at each affected position. c, Sanger-verified mutated base (red arrow) with the corresponding reference bases. d, Brain MRI images from F050 and F609 demonstrate mild periventricular T2 hyperintensity (blue arrows). conserved Domain Annotations: GBP (AA 43–314) as pfam02263; Membrane localization domain (AA 448–558) from UniProtKB (Q8WXF7.1).