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Table 1 Hyperekplexia mutations in GLRA1

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

Mutation Mutation type Inheritance hGlyR position Notes Reference
ΔEx1-7 deletion recessive n.a.   [50]
ΔEx4-7 deletion recessive n.a. compound heterozygous with R65L [9]
R65L missense recessive ECD compound heterozygous with ΔEx4-7 [9]
R65W missense recessive ECD compound heterozygous with P230S [9]
W68C missense recessive ECD compound heterozygous with R316X [51]
R72fsX47 deletion recessive ECD   [52]
R72H missense recessive ECD   [53]
R72C missense recessive ECD   [8]
E103K missense recessive ECD compound heterozygous with L184fsX21 [9]
Y128C missense dominant ECD   [9]
K132fsX15 deletion recessive ECD   [54]
C138S missense recessive ECD compound heterozygous with D148fsX16 [55]
M147V missense recessive ECD   [52]
D148fsX16 deletion recessive ECD compound heterozygous with C138S [55]
D165G missense recessive ECD   [9]
W170S missense recessive ECD   [56]
L184fsX21 deletion recessive ECD compound heterozygous with E103K [9]
Y197X nonsense recessive ECD compound heterozygous with Y202X [9]
Y202X nonsense recessive ECD compound heterozygous with Y197X [52]
R218Q missense de novo ECD compound heterozygous with S296X [49]
R218W missense recessive ECD   [8]
Q226E missense dominant TM1   [8]
Y228C missense recessive TM1   [57]
P230S missense recessive TM1 compound heterozygous with R65W [8]
S231R missense recessive TM1   [58]
S231N missense recessive TM1 compound heterozygous with S296X [9]
W239C missense dominant TM1   [59]
I244N missense recessive TM1   [47]
P250T missense dominant TM1-TM2 loop   [60]
R252H missense recessive TM2 compound heterozygous with R392H [48]
R252C missense recessive TM2   [9]
G254D missense recessive TM2   [9]
V260M missense dominant TM2   [49]
T265I missense dominant TM2   [9]
Q266H missense dominant TM2   [61]
S267N missense dominant TM2   [62]
S270T missense recessive TM2   [63]
R271L missense dominant TM2   [7]
R271Q missense dominant TM2   [7]
R271P missense dominant TM2   [64]
R271X nonsense dominant TM2   [13]
K276E missense dominant TM2-TM3 loop   [65]
K276Q missense de novo TM2-TM3 loop   [66]
Y279C missense dominant TM2-TM3 loop   [67]
Y279X nonsense recessive TM2-TM3 loop   [59]
Y279S missense dominant TM2-TM3 loop   [68]
V280M missense dominant TM2-TM3 loop   [8]
L291P missense recessive TM3 compound heterozygous with D388A [8]
S296X nonsense recessive TM3 compound heterozygous with S231N and R218Q [69]
R316X nonsense recessive TM3-TM4 loop compound heterozygous with W68C [51]
G342S missense recessive TM3-TM4 loop   [70]
E375X nonsense recessive TM3-TM4 loop   [8]
D388A missense recessive TM3-TM4 loop compound heterozygous with L291P [8]
R392H missense recessive TM4 compound heterozygous with R252H [48]
R414H missense dominant TM4   [8]
  1. ECD extracellular binding domain, TM transmembrane.