Type of mutations
The SLC9A7-related variant (p.L515F) is a missense mutation that is pathogenic. The protein that is produced from the SLC9A7 gene is located in one of the intracellular organelles (the Golgi). The SLC9A7p.L515F variant alters the chemical pH balance in the Golgi that is responsible for modifying and secreting proteins for multiple cell functions. Patients may be confirmed to have defects in protein modification (glycosylation) on specialized testing (protein electrophoresis or affinity chromatography-mass spectrometry).
SLC9A7