Variation Browser
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Receptor |
Position |
GPCRdb |
Segment |
Variant |
Mutation type |
Allele Frequency |
Allele Count |
Allele Number |
Homozygotes |
SIFT score |
PolyPhen score |
Functional annotation |
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Receptor |
Position |
GPCRdb |
Segment |
Variant |
Mutation Type |
Allele Frequency |
Allele Count |
Allele Number |
Homozygotes |
SIFT score |
PolyPhen score |
Functional annotation |
5ht4r_human |
375 |
|
C-term |
P => R |
missense |
8.238e-06 |
1 |
121396 |
0 |
nan |
0.132 |
|
5ht4r_human |
366 |
|
C-term |
G => R |
missense |
8.238e-06 |
1 |
121390 |
0 |
nan |
0.021 |
|
5ht4r_human |
362 |
|
C-term |
V => I |
missense |
3.296e-05 |
4 |
121374 |
0 |
nan |
0.029 |
|
5ht4r_human |
356 |
|
C-term |
H => R |
missense |
8.844e-06 |
1 |
113076 |
0 |
nan |
0.865 |
|
5ht4r_human |
352 |
|
C-term |
N => K |
missense |
8.652e-06 |
1 |
115584 |
0 |
nan |
0.967 |
|
5ht4r_human |
350 |
|
C-term |
T => S |
missense |
8.555e-06 |
1 |
116884 |
0 |
0.41 |
0.106 |
|
5ht4r_human |
350 |
|
C-term |
T => A |
missense |
2.564e-05 |
3 |
116998 |
0 |
0.04 |
0.452 |
|
5ht4r_human |
349 |
|
C-term |
T => A |
missense |
8.517e-06 |
1 |
117410 |
0 |
0.16 |
0.051 |
|
5ht4r_human |
348 |
|
C-term |
T => N |
missense |
8.495e-06 |
1 |
117718 |
0 |
0.06 |
0.049 |
|
5ht4r_human |
343 |
|
C-term |
T => I |
missense |
8.361e-06 |
1 |
119596 |
0 |
0.01 |
0.419 |
|
5ht4r_human |
339 |
|
C-term |
I => S |
missense |
8.295e-06 |
1 |
120560 |
0 |
0.2 |
0.011 |
|
5ht4r_human |
333 |
|
C-term |
R => H |
missense |
3.307e-05 |
4 |
120956 |
0 |
nan |
0.039 |
|
5ht4r_human |
333 |
|
C-term |
R => C |
missense |
1.653e-05 |
2 |
120990 |
0 |
nan |
0.91 |
|
5ht4r_human |
332 |
|
C-term |
E => G |
missense |
2.479e-05 |
3 |
121018 |
0 |
0.03 |
0.281 |
|
5ht4r_human |
330 |
|
C-term |
D => E |
missense |
8.261e-06 |
1 |
121054 |
0 |
0.05 |
0.253 |
|
5ht4r_human |
322 |
8.53x53 |
H8 |
A => V |
missense |
8.256e-06 |
1 |
121126 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
321 |
8.52x52 |
H8 |
R => H |
missense |
1.651e-05 |
2 |
121120 |
0 |
0.04 |
0.087 |
|
5ht4r_human |
321 |
8.52x52 |
H8 |
R => C |
missense |
8.256e-05 |
10 |
121128 |
0 |
0.01 |
0.959 |
|
5ht4r_human |
318 |
8.49x49 |
H8 |
S => C |
missense |
1.651e-05 |
2 |
121148 |
0 |
0.02 |
0.952 |
GP (contact) |
5ht4r_human |
313 |
7.54x54 |
TM7 |
A => T |
missense |
2.476e-05 |
3 |
121160 |
0 |
0.01 |
0.995 |
|
5ht4r_human |
306 |
7.47x47 |
TM7 |
G => V |
missense |
8.253e-06 |
1 |
121172 |
0 |
0.04 |
0.85 |
|
5ht4r_human |
306 |
7.47x47 |
TM7 |
G => R |
missense |
8.254e-06 |
1 |
121160 |
0 |
0.02 |
0.976 |
|
5ht4r_human |
302 |
7.43x42 |
TM7 |
Y => F |
missense |
2.475e-05 |
3 |
121188 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
291 |
7.32x31 |
TM7 |
G => R |
missense |
8.251e-06 |
1 |
121202 |
0 |
0.51 |
0.043 |
|
5ht4r_human |
283 |
6.59x59 |
TM6 |
P => L |
missense |
8.251e-06 |
1 |
121196 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
279 |
6.55x55 |
TM6 |
N => S |
missense |
2.476e-05 |
3 |
121182 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
278 |
6.54x54 |
TM6 |
T => S |
missense |
8.251e-06 |
1 |
121196 |
0 |
0.05 |
0.879 |
|
5ht4r_human |
277 |
6.53x53 |
TM6 |
V => I |
missense |
8.252e-06 |
1 |
121180 |
0 |
0.97 |
0.024 |
|
5ht4r_human |
263 |
6.39x39 |
TM6 |
I => N |
missense |
9.077e-05 |
11 |
121182 |
0 |
0.0 |
0.988 |
|
5ht4r_human |
260 |
6.36x36 |
TM6 |
T => N |
missense |
6.602e-05 |
8 |
121180 |
1 |
0.0 |
1.0 |
GP (contact) |
5ht4r_human |
260 |
6.36x36 |
TM6 |
T => A |
missense |
8.252e-06 |
1 |
121178 |
0 |
0.0 |
1.0 |
GP (contact) |
5ht4r_human |
258 |
6.34x34 |
TM6 |
A => T |
missense |
8.253e-06 |
1 |
121162 |
0 |
0.0 |
1.0 |
SodiumPocket MicroSwitch |
5ht4r_human |
255 |
6.31x31 |
TM6 |
T => I |
missense |
8.253e-06 |
1 |
121172 |
0 |
0.0 |
0.992 |
|
5ht4r_human |
253 |
6.29x29 |
TM6 |
T => I |
missense |
8.253e-06 |
1 |
121168 |
0 |
0.13 |
0.102 |
GP (contact) |
5ht4r_human |
252 |
6.28x28 |
TM6 |
R => K |
missense |
8.254e-06 |
1 |
121148 |
0 |
0.96 |
0.02 |
GP (contact) |
5ht4r_human |
250 |
6.26x26 |
TM6 |
R => H |
missense |
6.603e-05 |
8 |
121160 |
0 |
0.04 |
0.993 |
GP (contact) |
5ht4r_human |
250 |
6.26x26 |
TM6 |
R => C |
missense |
2.476e-05 |
3 |
121160 |
0 |
0.0 |
0.993 |
GP (contact) |
5ht4r_human |
247 |
|
ICL3 |
S => N |
missense |
6.603e-05 |
8 |
121152 |
0 |
0.44 |
0.008 |
|
5ht4r_human |
246 |
|
ICL3 |
H => R |
missense |
8.255e-06 |
1 |
121146 |
0 |
0.27 |
0.036 |
|
5ht4r_human |
246 |
|
ICL3 |
H => Y |
missense |
8.254e-06 |
1 |
121148 |
0 |
0.01 |
0.745 |
|
5ht4r_human |
244 |
|
ICL3 |
D => E |
missense |
8.254e-06 |
1 |
121154 |
0 |
0.31 |
0.02 |
|
5ht4r_human |
243 |
|
ICL3 |
A => S |
missense |
4.128e-05 |
5 |
121120 |
0 |
0.63 |
0.023 |
|
5ht4r_human |
242 |
|
ICL3 |
S => L |
missense |
2.477e-05 |
3 |
121134 |
0 |
0.17 |
0.108 |
|
5ht4r_human |
237 |
|
ICL3 |
E => K |
missense |
0.0001816 |
22 |
121126 |
0 |
0.39 |
0.166 |
|
5ht4r_human |
232 |
|
ICL3 |
A => S |
missense |
2.477e-05 |
3 |
121118 |
0 |
0.05 |
0.783 |
|
5ht4r_human |
231 |
|
ICL3 |
R => Q |
missense |
1.651e-05 |
2 |
121114 |
0 |
0.04 |
0.842 |
|
5ht4r_human |
231 |
|
ICL3 |
R => W |
missense |
0.0001899 |
23 |
121102 |
0 |
0.0 |
0.996 |
|
5ht4r_human |
230 |
5.76x76 |
TM5 |
Q => R |
missense |
8.256e-06 |
1 |
121122 |
0 |
0.0 |
0.881 |
|
5ht4r_human |
228 |
5.74x74 |
TM5 |
M => I |
missense |
1.651e-05 |
2 |
121106 |
0 |
0.22 |
0.005 |
GP (contact) |
5ht4r_human |
228 |
5.74x74 |
TM5 |
M => T |
missense |
8.258e-06 |
1 |
121102 |
0 |
0.76 |
0.012 |
GP (contact) |
5ht4r_human |
218 |
5.64x64 |
TM5 |
T => I |
missense |
8.263e-06 |
1 |
121016 |
0 |
0.02 |
0.844 |
GP (contact) |
5ht4r_human |
217 |
5.63x63 |
TM5 |
V => I |
missense |
8.265e-06 |
1 |
120990 |
0 |
0.29 |
0.03 |
|
5ht4r_human |
216 |
5.62x62 |
TM5 |
Y => C |
missense |
8.266e-06 |
1 |
120976 |
0 |
0.0 |
0.999 |
|
5ht4r_human |
214 |
5.60x60 |
TM5 |
R => H |
missense |
2.481e-05 |
3 |
120918 |
0 |
0.0 |
0.994 |
|
5ht4r_human |
214 |
5.60x60 |
TM5 |
R => C |
missense |
4.962e-05 |
6 |
120912 |
0 |
0.0 |
0.997 |
|
5ht4r_human |
208 |
5.54x54 |
TM5 |
M => V |
missense |
8.282e-06 |
1 |
120746 |
0 |
0.0 |
0.944 |
|
5ht4r_human |
204 |
5.50x50 |
TM5 |
P => L |
missense |
8.29e-06 |
1 |
120620 |
0 |
0.0 |
1.0 |
SodiumPocket MicroSwitch |
5ht4r_human |
203 |
5.49x49 |
TM5 |
I => F |
missense |
8.293e-06 |
1 |
120580 |
0 |
0.02 |
0.071 |
|
5ht4r_human |
200 |
5.46x461 |
TM5 |
A => V |
missense |
8.307e-06 |
1 |
120386 |
0 |
0.0 |
0.998 |
|
5ht4r_human |
199 |
5.45x46 |
TM5 |
V => A |
missense |
8.312e-06 |
1 |
120304 |
0 |
0.0 |
0.973 |
|
5ht4r_human |
195 |
5.41x42 |
TM5 |
T => I |
missense |
1.668e-05 |
2 |
119922 |
0 |
0.7 |
0.071 |
|
5ht4r_human |
191 |
5.37x38 |
TM5 |
P => H |
missense |
8.387e-06 |
1 |
119238 |
0 |
0.01 |
0.997 |
|
5ht4r_human |
191 |
5.37x38 |
TM5 |
P => T |
missense |
8.389e-06 |
1 |
119198 |
0 |
0.13 |
0.99 |
|
5ht4r_human |
187 |
|
ECL2 |
M => T |
missense |
9.323e-05 |
11 |
117986 |
0 |
0.0 |
0.9 |
|
5ht4r_human |
187 |
|
ECL2 |
M => L |
missense |
8.477e-06 |
1 |
117968 |
0 |
0.88 |
0.042 |
|
5ht4r_human |
183 |
|
ECL2 |
Y => H |
missense |
1.732e-05 |
2 |
115462 |
0 |
0.41 |
0.024 |
|
5ht4r_human |
182 |
|
ECL2 |
T => M |
missense |
0.0002433 |
28 |
115106 |
0 |
0.06 |
0.99 |
|
5ht4r_human |
182 |
|
ECL2 |
T => A |
missense |
8.745e-06 |
1 |
114354 |
0 |
0.09 |
0.771 |
|
5ht4r_human |
177 |
|
ECL2 |
Q => H |
missense |
9.103e-06 |
1 |
109854 |
0 |
0.18 |
0.008 |
|
5ht4r_human |
174 |
|
ECL2 |
K => T |
missense |
2.856e-05 |
3 |
105054 |
0 |
0.17 |
0.568 |
|
5ht4r_human |
173 |
|
ECL2 |
R => K |
missense |
7.692e-05 |
8 |
104004 |
0 |
0.17 |
0.348 |
|
5ht4r_human |
172 |
|
ECL2 |
K => R |
missense |
9.744e-06 |
1 |
102630 |
0 |
0.33 |
0.038 |
|
5ht4r_human |
158 |
4.62x62 |
TM4 |
M => T |
missense |
8.263e-06 |
1 |
121026 |
0 |
0.0 |
0.735 |
|
5ht4r_human |
150 |
4.54x54 |
TM4 |
T => M |
missense |
5.786e-05 |
7 |
120986 |
0 |
0.27 |
0.044 |
|
5ht4r_human |
149 |
4.53x53 |
TM4 |
P => S |
missense |
1.653e-05 |
2 |
120980 |
0 |
0.05 |
1.0 |
|
5ht4r_human |
148 |
4.52x52 |
TM4 |
I => V |
missense |
8.265e-06 |
1 |
120988 |
0 |
0.31 |
0.091 |
|
5ht4r_human |
143 |
4.47x47 |
TM4 |
G => V |
missense |
8.268e-06 |
1 |
120944 |
0 |
0.4 |
0.091 |
|
5ht4r_human |
140 |
4.44x44 |
TM4 |
L => S |
missense |
8.273e-06 |
1 |
120878 |
0 |
0.0 |
0.597 |
|
5ht4r_human |
139 |
4.43x43 |
TM4 |
A => T |
missense |
8.276e-06 |
1 |
120830 |
0 |
0.22 |
0.08 |
|
5ht4r_human |
137 |
4.41x41 |
TM4 |
R => H |
missense |
4.14e-05 |
5 |
120774 |
0 |
0.03 |
0.189 |
|
5ht4r_human |
137 |
4.41x41 |
TM4 |
R => P |
missense |
8.28e-06 |
1 |
120774 |
0 |
0.01 |
0.979 |
|
5ht4r_human |
137 |
4.41x41 |
TM4 |
R => C |
missense |
1.656e-05 |
2 |
120782 |
0 |
0.0 |
0.973 |
|
5ht4r_human |
135 |
4.39x39 |
TM4 |
P => R |
missense |
8.282e-06 |
1 |
120750 |
0 |
0.22 |
0.962 |
|
5ht4r_human |
131 |
34.55x55 |
ICL2 |
N => K |
missense |
8.293e-06 |
1 |
120588 |
0 |
0.28 |
0.232 |
GP (contact) |
5ht4r_human |
123 |
3.55x55 |
TM3 |
C => W |
missense |
8.356e-06 |
1 |
119670 |
0 |
0.0 |
1.0 |
GP (contact) |
5ht4r_human |
121 |
3.53x53 |
TM3 |
A => T |
missense |
8.399e-06 |
1 |
119064 |
0 |
0.0 |
0.984 |
GP (contact) |
5ht4r_human |
117 |
3.49x49 |
TM3 |
D => G |
missense |
1.636e-05 |
1 |
61124 |
0 |
0.0 |
0.994 |
SodiumPocket MicroSwitch |
5ht4r_human |
107 |
3.39x39 |
TM3 |
S => L |
missense |
1.245e-05 |
1 |
80290 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
105 |
3.37x37 |
TM3 |
T => M |
missense |
2.319e-05 |
2 |
86236 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
96 |
3.28x28 |
TM3 |
R => Q |
missense |
9.686e-06 |
1 |
103240 |
0 |
0.15 |
0.984 |
|
5ht4r_human |
96 |
3.28x28 |
TM3 |
R => W |
missense |
9.596e-06 |
1 |
104214 |
0 |
0.22 |
0.534 |
|
5ht4r_human |
95 |
3.27x27 |
TM3 |
V => I |
missense |
9.386e-06 |
1 |
106536 |
0 |
0.35 |
0.107 |
|
5ht4r_human |
93 |
3.25x25 |
TM3 |
C => R |
missense |
9.067e-06 |
1 |
110288 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
92 |
3.24x24 |
TM3 |
F => C |
missense |
8.994e-06 |
1 |
111190 |
0 |
0.0 |
0.998 |
|
5ht4r_human |
88 |
23.52x52 |
ECL1 |
Y => H |
missense |
8.62e-06 |
1 |
116006 |
0 |
0.05 |
0.733 |
|
5ht4r_human |
85 |
23.49x49 |
ECL1 |
I => V |
missense |
8.431e-06 |
1 |
118604 |
0 |
0.5 |
0.004 |
|
5ht4r_human |
77 |
2.61x60 |
TM2 |
G => R |
missense |
1.662e-05 |
2 |
120366 |
0 |
0.0 |
0.992 |
|
5ht4r_human |
75 |
2.59x58 |
TM2 |
P => T |
missense |
8.303e-06 |
1 |
120436 |
0 |
0.05 |
0.545 |
|
5ht4r_human |
71 |
2.55x55 |
TM2 |
V => A |
missense |
8.305e-06 |
1 |
120416 |
0 |
0.0 |
0.578 |
|
5ht4r_human |
70 |
2.54x54 |
TM2 |
S => L |
missense |
8.312e-06 |
1 |
120312 |
0 |
0.0 |
0.806 |
|
5ht4r_human |
65 |
2.49x49 |
TM2 |
A => V |
missense |
2.508e-05 |
3 |
119628 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
65 |
2.49x49 |
TM2 |
A => E |
missense |
8.359e-06 |
1 |
119628 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
62 |
2.46x46 |
TM2 |
L => P |
missense |
8.435e-06 |
1 |
118548 |
0 |
0.0 |
1.0 |
|
5ht4r_human |
44 |
1.57x57 |
TM1 |
V => M |
missense |
8.268e-06 |
1 |
120954 |
0 |
0.0 |
0.995 |
|
5ht4r_human |
42 |
1.55x55 |
TM1 |
V => A |
missense |
8.262e-06 |
1 |
121040 |
0 |
0.11 |
0.585 |
|
5ht4r_human |
32 |
1.45x45 |
TM1 |
M => T |
missense |
8.245e-06 |
1 |
121282 |
0 |
0.15 |
0.669 |
|
5ht4r_human |
27 |
1.40x40 |
TM1 |
S => L |
missense |
0.0001979 |
24 |
121294 |
0 |
0.08 |
0.265 |
|
5ht4r_human |
24 |
1.37x37 |
TM1 |
T => M |
missense |
0.0002556 |
31 |
121302 |
0 |
0.23 |
0.025 |
|
5ht4r_human |
16 |
1.29x29 |
TM1 |
S => T |
missense |
1.649e-05 |
2 |
121290 |
0 |
0.42 |
0.098 |
|
5ht4r_human |
15 |
|
N-term |
G => R |
missense |
0.0008081 |
98 |
121276 |
1 |
0.15 |
0.006 |
|
5ht4r_human |
9 |
|
N-term |
S => N |
missense |
8.265e-06 |
1 |
120992 |
0 |
0.05 |
0.005 |
|
5ht4r_human |
7 |
|
N-term |
N => K |
missense |
8.262e-06 |
1 |
121030 |
0 |
nan |
0.055 |
|
5ht4r_human |
7 |
|
N-term |
N => K |
missense |
1.652e-05 |
2 |
121030 |
0 |
nan |
0.055 |
|
5ht4r_human |
5 |
|
N-term |
D => E |
missense |
8.261e-06 |
1 |
121052 |
0 |
nan |
0.005 |
|
5ht4r_human |
335 |
|
C-term |
R => Ter |
stop gained |
8.272e-06 |
1 |
120894 |
0 |
None |
None |
|
5ht4r_human |
261 |
6.37x37 |
TM6 |
L => CysfsTer25 |
frameshift |
8.252e-06 |
1 |
121182 |
0 |
None |
None |
GP (contact) |
5ht4r_human |
93 |
3.25x25 |
TM3 |
C => Ter |
stop gained |
9.166e-06 |
1 |
109098 |
0 |
None |
None |
|
5ht4r_human |
74 |
2.58x57 |
TM2 |
M => LeufsTer19 |
frameshift |
0.0001588 |
19 |
119634 |
1 |
None |
None |
|
5ht4r_human |
66 |
2.50x50 |
TM2 |
D => Ter |
stop gained |
0.0002789 |
3 |
10758 |
0 |
None |
None |
|
Residue
- deleterious missense variants are shown in red
- tolerated missense variants are shown in green
- loss of function mutations ('stop gained' or 'frameshift' in the coding region) are shown in blue
Diagrams
SnakePlot Download:
PNG |
SVG
HelixBox Download:
PNG |
SVG