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 â–³S262 | [11] |
F19IfsX3 | deletion | recessive | ECD | [11] | |
Q216fsX222 | deletion | recessive | ECD | compound heterozygous with E24X | [14] |
G229D | missense | recessive | ECD | compound heterozygous with ΔEx5 | [15] |
â–³S262 | 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] |