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. 2016 Sep 15;99(4):831–845. doi: 10.1016/j.ajhg.2016.08.007

Figure 1.

Figure 1

Pedigrees and ATAD3A Variant Details

(A) Pedigrees of studied families, indicating the recurrent de novo single-nucleotide variant (SNV) in ATAD3A in families 1–5, a homozygous SNV in family 6, and compound heterozygous deletion copy-number variants (CNVs) in family 7.

(B) Sanger validation of the ATAD3A variant in family 1.

(C) The p.Thr53Ile and p.Arg528Trp substitutions alter conserved residues.

(D) Protein structure prediction shows replacement of the arginine long side chain by a flat aromatic ring of tryptophan. Color spectrum indicates high conservation of the Arg528 residue. Surface structure modeling indicates that the arginine at position 528 resides in a conserved pocket, possibly a functional site. The mutation alters the configuration of the pocket.

(E) Schematic representation of ATAD3A (isoform 2) with indication of the coiled-coil domain (CC), transmembrane domain (TMD), and AAA domain including Walker A and Walker B ATP-binding and ATPase domains, respectively. Localization of the altered residues in families 1–6 is indicated. The three human ATAD3 genes are located in tandem on chromosome 1p36.33.