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Table 2 Hyperekplexia mutations in GLRB

From: The impact of human hyperekplexia mutations on glycine receptor structure and function

Mutation Mutation type Inheritance GlyR position Notes Reference
ΔEx1-8 deletion recessive n.a.   [11]
Splice site mutation In4 (c.298-1G > A) missense recessive n.a. compound heterozygous with S321F [13]
ΔEx5 deletion recessive n.a. compound heterozygous with G229D [15]
ΔEx5 and S176RfsX6 deletion recessive n.a.   [11]
E24X nonsense recessive ECD   [11]
R50X nonsense recessive ECD compound heterozygous with Q216fsX222 [14]
P169L missense recessive ECD   [11]
M177R missense recessive ECD   [10]
R190X nonsense recessive ECD compound heterozygous with S262 [11]
F19IfsX3 deletion recessive ECD   [11]
Q216fsX222 deletion recessive ECD compound heterozygous with E24X [14]
G229D missense recessive ECD compound heterozygous with ΔEx5 [15]
S262 deletion recessive TM1 compound heterozygous with R190X [11]
L285R missense de novo TM2   [12]
W310C missense recessive TM2-TM3 loop   [12]
S321F missense recessive TM3 compound heterozygous with In4 (c.298-1G > A) [13]
R450X nonsense recessive TM3-TM4 loop   [11]
Y470C missense dominant TM4   [11]
  1. ECD extracellular binding domain, TM transmembrane.