Table 1.
Hyperekplexia mutations in GLRA1
| 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] |
ECD extracellular binding domain, TM transmembrane.