Schematic representation of the CCDC114 gene and protein. Numbered boxes indicate exons, and unnumbered boxes indicate introns or intergenic regions. Regions indicated by dashed lines represent out-of-proportion exons or introns. All mutations were described following the CCDC114 isoform (NM_144577.4, NP_653178.3). Three coiled-coil domains (residues 9-155, 183-224, and 302-381), a phosphorylation site (p.S517) and a serine-rich region (residues 590-668) were shown in the protein. CCDC114, the coiled-coil domain containing 114 gene. aa, amino acids.