Figure 3.

Additional SLC12A2 frameshift and stop codon variants in human population. The Ensembl genome browser database (species/gene/transcript/exons) color lists a large number of variants for each human gene, and we identified 13 unique variations leading to NKCC1 truncation. The majority of these mutations are also reported in the ExAC database (http://exac.broadinstitute.org/). These variants are labeled 1–13, and their position in the protein is indicated by arrows. The location of the NKCC1-DFX mutation is shown by the red arrow. The 12 transmembrane domains are designated by alternate black and gray boxes crossing the plasma membrane (blue). The location of the exons is indicated above the protein with size of introns proportionally drawn as vertical lines. DNA and amino acid sequence of the 13 variants are listed under the (1) Ensembl database and/or (2) ExAC database.