NBAS Structure and Conservation of Identified Mutations
Gene structure of NBAS with known protein domains of the gene product and localization and conservation of amino acid residues affected by mutations. Mutation c.5741G>A (p.Arg1914His) in exon 45 in the C-terminal domain of unknown function is associated with SOPH syndrome.17 Amino acids 90–371 form a quinoprotein aminedehydrogenase, beta chain like domain (IPR011044) and amino acids 725–1,376 form a secretory pathway sec39 domain (IPR013244). Intronic regions are not drawn to scale.