Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Akemi J. Tanaka, Megan T. Cho, Francisca Millan,

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. van Gassen, Catharina M.L. Volker-Touw, Ellen van Binsbergen, Nara Sobreira, Ada Hamosh, Dianalee McKnight, Kristin G. Monaghan, Wendy K. Chung The American Journal of Human Genetics Volume 97, Issue 3, Pages 457-464 (September 2015) DOI: 10.1016/j.ajhg.2015.07.014 Copyright © 2015 The American Society of Human Genetics Terms and Conditions

Figure 1 Variants in SPATA5 (A) Diagram of SPATA5 with variants identified in green. Missense and in-frame deletions are shown below, and gene-disrupting variants are shown above. (B) Sequence alignment of the CDC48 N-terminal domain (turquoise), AAA domains (yellow), and Walker A, Walker B, and second region of homology (SRH) motifs (blue text, underlined). A putative mitochondria-targeting sequence is highlighted in green, and potential ubiquitination sites11–13 are in gray. Residues altered in (A) are shown in bold red text. Species abbreviations are as follows: chimpanzee (Pantr, Pan troglodytes), fruit fly (Drome, Drosophila melanogaster), nematode (Cael, C. elegans), and budding yeast (Yeast, S. cerevisiae). The American Journal of Human Genetics 2015 97, 457-464DOI: (10.1016/j.ajhg.2015.07.014) Copyright © 2015 The American Society of Human Genetics Terms and Conditions