Fig. 1

Identification of patients with neurological phenotypes with variants in ATAD3A. a Pedigrees of studied families, indicating biallelic variants in ATAD3A identified in 13 individuals from 8 families. Biallelic deletions were identified in families 1 and 2, loss-of-function alleles (intergenic CNV, intragenic CNV, or frameshift SNV) inherited in trans to a missense variant in families 3–7, and a homozygous missense variant in family 8. ^Parents were tested by indirect segregation analysis using SNP arrays. b Protein sequence alignment in multiple species confirms evolutionary conservation of p.L77V, p.F50L, pR170W, p.G236V, p.K568del, and p.R327P, in both humans and Drosophila. A box shows human SNVs in ATAD3A and the Drosophila dAtad3a variants homologous to the human variants. c Schematic representation of protein domains of human ATAD3A and positions of the SNVs. CC indicates coiled-coil domain. TM indicates putative transmembrane domain. Green indicates AAA+ domain containing Walker A motif (WA) and Walker B motif (WB). d In silico protein structure prediction of ATAD3A shows the position of mutated residues