Skip to main content

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.