A genetic mutation of a residue in this loop of the α1 GlyR subunit in hyperekplexia patients (A384P) has been found to increase the rate and extend of desensitization [22], and a switch of this loop between α1 and α3 GlyRs has been shown to transfer biophysical properties between the two channels [23]. Here, GARS1 is linked to hyperekplexia.