Table 2.

Mutations in GLRB encoding the GlyR β subunit and functional consequences.

GlyRβ1					Defect
GlyR subunit	Compound Heterozygous	Inheritance	Location in GlyR		Biogenesis	Function	Reference
F-191fsX3		Recessive	ECD				Chung et al., 2013
Δexl-8		Recessive	ECD				Chung et al., 2013
Δex5	G229D	Recessive	ECD				Rees et al., 2002
Δex5 and		Recessive	ECD				Chung et al., 2013
S176RfsX6
E24X		Recessive	ECD	N-terminus			Chung et al., 2013
R50X	Q216fsX222	Recessive	ECD	α1-β1			Mine et al., 2013
P169L		Recessive	ECD	β6-β7 (Cys loop)	Reduced surface expression	Functional	Chung et al., 2013
M177R		Recessive	ECD	β7			Al-Owain et al., 2012
R190X	ΔS262	Recessive	ECD	β8		Functional	Chung et al., 2013
Q216fsX222	R50X	Recessive	ECD				Mine et al., 2013
G229D	Δex5	Recessive	ECD	β10			Rees et al., 2002
ΔS262	R190X	Recessive	TM1		Reduced surface expression	Functional	Chung et al., 2013
L285R		Recessive	TM2		Reduced surface expression		James et al., 2013
W310C		Recessive	TM2-3		Reduced surface expression		James et al., 2013
S321F	In4 (c.298-1G < A)	Recessive	TM3				Lee et al., 2013
R450X		Recessive	TM3-4		Reduced surface expression	Functional	Chung et al., 2013
Y470C		Dominant	TM4		Reduced surface expression	Functional	Chung et al., 2013

Amino acid residues refer to mature protein.