Fig. 1.

Pathogenic mutations in the postsynaptic GlyR α1 and β subunits in startle disease. The predicted four-membrane spanning domain (M1–M4) topology of GlyR α1 and GlyR β subunits is depicted. Numbered columns indicate four predicted membrane-spanning domains 1–4 in each subunit. Red (dominantly inherited) and blue circles (recessively inherited) indicate the relative positions of amino acid alterations known to cause human startle disease. Purple circles indicate the relative positions of amino acid alterations found in mouse, cattle and zebrafish glycinergic disorders. For primary references to previously reported specific mutations, see Harvey et al. (2008), Chung et al. (2010, 2013) and James et al. (2013).