Skip to main content
. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: Ann Neurol. 2014 Sep 19;76(4):581–593. doi: 10.1002/ana.24225

Figure 4. Patient mutations in NHE6 protein.

Figure 4

Mutations from all families in the present report (n = 12) are shown in the NHE6 protein. The NHE6 protein is a twelve-membrane spanning motif with the Na+/H+ exchange occurring between transmembrane segments S4 and S5. While most mutations are located in the transmembrane domain, two mutations (3 and 7) are located in the carboxyl domain. cDNA positions are based on Ensembl transcript ENST00000370695 and peptide positions are based on ENSP00000359729. Probands from families #1–7 exhibit de novo mutations, whereas probands from families #8–12 exhibit inherited mutations.