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 | Â | [52] |
R72H | missense | recessive | ECD | Â | [53] |
R72C | missense | recessive | ECD | Â | [8] |
E103K | missense | recessive | ECD | compound heterozygous with L184fsX21 | [9] |
Y128C | missense | dominant | ECD | Â | [9] |
K132fsX15 | deletion | recessive | ECD | Â | [54] |
C138S | missense | recessive | ECD | compound heterozygous with D148fsX16 | [55] |
M147V | missense | recessive | ECD | Â | [52] |
D148fsX16 | deletion | recessive | ECD | compound heterozygous with C138S | [55] |
D165G | missense | recessive | ECD | Â | [9] |
W170S | missense | recessive | ECD | Â | [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 | Â | [8] |
Q226E | missense | dominant | TM1 | Â | [8] |
Y228C | missense | recessive | TM1 | Â | [57] |
P230S | missense | recessive | TM1 | compound heterozygous with R65W | [8] |
S231R | missense | recessive | TM1 | Â | [58] |
S231N | missense | recessive | TM1 | compound heterozygous with S296X | [9] |
W239C | missense | dominant | TM1 | Â | [59] |
I244N | missense | recessive | TM1 | Â | [47] |
P250T | missense | dominant | TM1-TM2 loop | Â | [60] |
R252H | missense | recessive | TM2 | compound heterozygous with R392H | [48] |
R252C | missense | recessive | TM2 | Â | [9] |
G254D | missense | recessive | TM2 | Â | [9] |
V260M | missense | dominant | TM2 | Â | [49] |
T265I | missense | dominant | TM2 | Â | [9] |
Q266H | missense | dominant | TM2 | Â | [61] |
S267N | missense | dominant | TM2 | Â | [62] |
S270T | missense | recessive | TM2 | Â | [63] |
R271L | missense | dominant | TM2 | Â | [7] |
R271Q | missense | dominant | TM2 | Â | [7] |
R271P | missense | dominant | TM2 | Â | [64] |
R271X | nonsense | dominant | TM2 | Â | [13] |
K276E | missense | dominant | TM2-TM3 loop | Â | [65] |
K276Q | missense | de novo | TM2-TM3 loop | Â | [66] |
Y279C | missense | dominant | TM2-TM3 loop | Â | [67] |
Y279X | nonsense | recessive | TM2-TM3 loop | Â | [59] |
Y279S | missense | dominant | TM2-TM3 loop | Â | [68] |
V280M | missense | dominant | TM2-TM3 loop | Â | [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 | Â | [70] |
E375X | nonsense | recessive | TM3-TM4 loop | Â | [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 | Â | [8] |