Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P51790

Entry ID Method Resolution Chain Position Source
AF-P51790-F1 Predicted AlphaFoldDB

383 variants for P51790

Variant ID(s) Position Change Description Diseaes Association Provenance
CA358734888
RCV000623942
rs1553965256
11 Y>C Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_086219 85 Y>C NEDHYBA [UniProt] Yes UniProt
RCV002051932
VAR_086220
rs1732397227
RCV001289539
252 I>T Neurodevelopmental disorder with hypotonia and brain abnormalities NEDHYBA [ClinVar, UniProt] Yes ClinVar
UniProt
dbSNP
VAR_086221 324 V>A NEDHYBA [UniProt] Yes UniProt
CA358739536
rs1190062987
VAR_086222
413 A>V NEDHYBA; unknown pathological significance [UniProt] Yes ClinGen
UniProt
TOPMed
dbSNP
RCV001267240
rs1732611964
453 S>I Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
VAR_086223 453 S>R NEDHYBA [UniProt] Yes UniProt
VAR_086224
RCV001195290
RCV001553775
rs1732900321
RCV001597254
570 T>I Neurodevelopmental disorder Neurodevelopmental disorder with hypotonia and brain abnormalities NEDHYBA [ClinVar, UniProt] Yes ClinVar
UniProt
dbSNP
VAR_086225 607 I>T NEDHYBA [UniProt] Yes UniProt
VAR_086226 772 V>A NEDHYBA [UniProt] Yes UniProt
rs1386616364
CA358734828
2 E>D No ClinGen
gnomAD
CA3138159
rs750029741
3 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs766254279
CA3138161
8 H>L No ClinGen
ExAC
gnomAD
CA3138162
rs751440151
11 Y>* No ClinGen
ExAC
gnomAD
rs938710480
CA109929107
12 Y>S No ClinGen
TOPMed
rs1432870238
CA358734898
13 R>G No ClinGen
TOPMed
CA3138163
rs754831858
13 R>T No ClinGen
ExAC
gnomAD
rs780940007
CA3138164
14 N>K No ClinGen
ExAC
gnomAD
CA109929123
rs1057457298
14 N>S No ClinGen
TOPMed
gnomAD
rs757213816
CA3138166
17 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA109929134
rs916012724
18 S>G No ClinGen
TOPMed
rs779026941
CA3138167
19 I>V No ClinGen
ExAC
gnomAD
rs1482637391
CA358734960
22 A>T No ClinGen
TOPMed
CA358735019
rs1412011228
30 D>H No ClinGen
gnomAD
rs780368756
CA3138170
32 A>T No ClinGen
ExAC
gnomAD
CA109929178
rs903364926
36 M>T No ClinGen
Ensembl
CA3138171
rs747298399
37 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1410043115
CA358735095
41 S>P No ClinGen
gnomAD
CA109929213
rs748721807
42 E>Q No ClinGen
Ensembl
rs1347716008
CA358735112
43 D>G No ClinGen
TOPMed
CA3138174
rs762388847
45 N>S No ClinGen
ExAC
gnomAD
TCGA novel 45 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358735140
rs1278355728
47 L>S No ClinGen
TOPMed
rs769424677
CA3138175
49 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA3138213
rs781390349
54 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA3138214
rs201334655
55 T>A No ClinGen
ExAC
gnomAD
CA109958407
rs201334655
55 T>S No ClinGen
ExAC
gnomAD
rs756569255
CA3138215
56 H>L No ClinGen
ExAC
gnomAD
CA3138216
rs549590310
56 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA109958413
rs370632344
59 M>V No ClinGen
ESP
TOPMed
rs1581242261
CA358735716
64 S>T No ClinGen
Ensembl
CA3138218
rs770557420
65 I>T No ClinGen
ExAC
gnomAD
rs1217887183
CA358735735
67 S>G No ClinGen
TOPMed
CA3138220
rs745483415
68 S>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 68 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138221
rs771793397
69 T>A No ClinGen
ExAC
gnomAD
CA3138223
rs760416841
70 H>N No ClinGen
ExAC
gnomAD
rs760416841
CA3138224
70 H>Y No ClinGen
ExAC
gnomAD
rs776486775
CA3138225
76 D>E No ClinGen
ExAC
gnomAD
rs761808392
CA3138226
79 I>L No ClinGen
ExAC
gnomAD
rs761808392
CA3138227
79 I>V No ClinGen
ExAC
gnomAD
CA109958502
rs139927169
82 V>I No ClinGen
ESP
CA358735889
rs1178903765
90 T>I No ClinGen
gnomAD
rs572011033
CA3138228
91 I>V No ClinGen
1000Genomes
ExAC
gnomAD
COSM1328602
rs767730345
CA3138230
95 R>Q ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752979519
CA3138231
99 K>E No ClinGen
ExAC
gnomAD
rs756479262
CA3138232
103 R>K No ClinGen
ExAC
gnomAD
CA358735988
rs1365436406
104 H>R No ClinGen
TOPMed
gnomAD
rs1022851734
CA109958559
104 H>Y No ClinGen
TOPMed
rs368229029
CA358736000
106 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3138245
COSM1566864
rs769810828
107 I>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
CA3138247
rs759602220
111 K>T No ClinGen
ExAC
gnomAD
TCGA novel 113 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358736419
rs1234890652
115 A>P No ClinGen
TOPMed
rs1315731682
CA358736423
115 A>V No ClinGen
TOPMed
rs1219530656
CA358736430
116 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1277144651
CA358736479
122 L>F No ClinGen
TOPMed
rs1581251098
CA358736485
123 Y>F No ClinGen
Ensembl
rs1190935186
CA358736501
125 A>V No ClinGen
gnomAD
CA109963279
rs200318516
139 S>L No ClinGen
Ensembl
CA3138272
rs765527443
141 A>S No ClinGen
ExAC
gnomAD
TCGA novel 141 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750938737
CA3138273
141 A>V No ClinGen
ExAC
gnomAD
TCGA novel 144 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1399824324
CA358736664
150 A>T No ClinGen
TOPMed
CA109964153
rs1011368029
150 A>V No ClinGen
TOPMed
CA109964155
rs1020526305
151 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 152 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1344678532
CA358736697
154 T>I No ClinGen
gnomAD
rs371498763
CA3138276
154 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1581252557
CA358736708
156 L>V No ClinGen
Ensembl
CA358736724
rs1259824647
158 E>G No ClinGen
gnomAD
rs780765011
CA3138278
160 I>V No ClinGen
ExAC
CA358736762
rs1181522203
164 A>T No ClinGen
gnomAD
rs755931467
CA3138280
164 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA109964194
rs74366331
169 H>L No ClinGen
Ensembl
rs771029683
CA3138283
170 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs953473166
CA109964204
172 C>S No ClinGen
TOPMed
rs1465317171
CA358736859
173 C>Y No ClinGen
gnomAD
rs774456990
CA3138284
175 G>V No ClinGen
ExAC
gnomAD
rs61731290
CA109964232
180 T>R No ClinGen
Ensembl
rs1581252678
CA358736970
182 E>G No ClinGen
Ensembl
rs1348012857
CA358737004
185 D>V No ClinGen
gnomAD
CA358737051
rs1277130315
189 Q>* No ClinGen
TOPMed
CA3138285
rs747033096
189 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1016259360
CA109964244
192 T>A No ClinGen
TOPMed
TCGA novel 192 T>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 197 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762010145
CA3138288
198 I>V No ClinGen
ExAC
gnomAD
rs376136772
CA3138289
200 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1328448899
CA358737228
207 Y>D No ClinGen
TOPMed
gnomAD
rs774833339
CA3138310
212 I>L No ClinGen
ExAC
gnomAD
CA358737284
rs1287533439
214 Y>F No ClinGen
gnomAD
rs766991448
CA3138312
215 I>V No ClinGen
ExAC
gnomAD
rs955680174
CA109965130
216 F>S No ClinGen
TOPMed
CA358737303
rs1226592441
217 W>R No ClinGen
TOPMed
gnomAD
rs752184994
CA3138313
224 L>V No ClinGen
ExAC
gnomAD
CA3138314
rs760259652
225 A>S No ClinGen
ExAC
gnomAD
CA3138316
rs753538599
230 K>R No ClinGen
ExAC
gnomAD
TCGA novel 231 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 231 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1207853975
CA358737430
236 A>T No ClinGen
gnomAD
CA3138319
rs750376977
242 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs750376977
CA358737471
242 P>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 253 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465065302
CA358737565
254 R>K No ClinGen
TOPMed
rs1019611361
CA109966247
257 L>V No ClinGen
TOPMed
TCGA novel 259 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358737609
rs1218714279
260 W>L No ClinGen
TOPMed
CA358737633
COSM1053184
rs1349874515
263 M>I endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 269 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1451554958
CA358737691
269 L>S No ClinGen
TOPMed
rs749489517
CA3138343
272 A>T No ClinGen
ExAC
gnomAD
CA358737719
rs1279402323
272 A>V No ClinGen
gnomAD
CA358737746
rs1212665249
275 S>P No ClinGen
gnomAD
CA358737926
rs772496354
287 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA3138347
rs772496354
287 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1560862182
CA358737949
289 A>S No ClinGen
Ensembl
rs775791470
CA3138348
289 A>V No ClinGen
ExAC
gnomAD
rs761314451
CA3138349
292 C>G No ClinGen
ExAC
gnomAD
rs1406868937
CA358738005
293 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs866188903
CA109966327
296 F>L No ClinGen
Ensembl
CA3138351
rs776334285
299 L>F No ClinGen
ExAC
gnomAD
rs761530088
CA3138352
299 L>P No ClinGen
ExAC
gnomAD
rs773021475
CA3138354
301 P>L No ClinGen
ExAC
gnomAD
TCGA novel 301 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA109966373
rs920055186
304 S>N No ClinGen
TOPMed
gnomAD
CA358738197
rs1302413324
305 T>K No ClinGen
gnomAD
CA358738216
rs766201822
306 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1236240878
CA358738222
COSM3428331
307 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA358738244
rs1338388515
308 A>D No ClinGen
gnomAD
CA358738238
rs1303631952
308 A>T No ClinGen
gnomAD
rs1214682822
CA358738882
317 A>S No ClinGen
gnomAD
rs1581260453
CA358738914
322 V>G No ClinGen
Ensembl
rs759279829
CA3138376
322 V>I No ClinGen
ExAC
gnomAD
CA358738947
rs1445496556
328 A>T No ClinGen
gnomAD
CA358738960
rs1195518037
330 I>V No ClinGen
gnomAD
CA358738982
rs1581260464
333 V>G No ClinGen
Ensembl
CA358739040
rs1581262275
340 V>F No ClinGen
Ensembl
rs950652760
CA109969388
342 Y>S No ClinGen
TOPMed
rs759313953
CA3138400
345 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3138401
rs771855891
346 L>F No ClinGen
ExAC
gnomAD
rs1179113077
CA358739123
352 S>T No ClinGen
gnomAD
rs1188097023 355 A>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1363179242
CA358739147
355 A>S No ClinGen
gnomAD
CA358739150
rs1451307324
355 A>V No ClinGen
gnomAD
CA358739152
rs1160127147
356 A>S No ClinGen
gnomAD
rs1385198933
CA358739156
356 A>V No ClinGen
gnomAD
rs1310539972
CA358739163
357 L>F No ClinGen
gnomAD
CA358739164
rs1376676265
358 V>L No ClinGen
gnomAD
rs199652837
CA3138403
360 A>G No ClinGen
ExAC
gnomAD
rs1334546592
CA358739181
361 F>V No ClinGen
gnomAD
CA3138405
rs750560352
362 V>F No ClinGen
ExAC
gnomAD
rs201934171
CA3138406
363 L>F No ClinGen
ExAC
gnomAD
rs1195330377
CA358739253
371 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358739266
COSM1201283
rs1249693885
373 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA3138410
rs138459789
373 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1292976144
CA358739270
374 L>V No ClinGen
TOPMed
CA109969459
rs990938444
376 L>V No ClinGen
TOPMed
rs1411112290
CA358739337
384 P>A No ClinGen
gnomAD
TCGA novel 384 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 388 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 388 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748783063
CA358739394
391 F>L No ClinGen
ExAC
gnomAD
CA109969490
rs375181512
392 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA358739412
rs1434761944
394 I>T No ClinGen
gnomAD
CA3138416
rs770356259
396 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA3138417
rs778557557
398 V>I No ClinGen
ExAC
gnomAD
CA109969507
rs199942294
404 G>* No ClinGen
1000Genomes
TCGA novel 404 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 404 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1264658684
CA358739479
405 A>G No ClinGen
TOPMed
TCGA novel 405 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370640886
CA358739494
407 F>S No ClinGen
gnomAD
rs267600078
CA109969521
409 R>S No ClinGen
Ensembl
CA358739506
rs1232578431
409 R>W No ClinGen
gnomAD
rs745571413
CA3138418
410 A>P No ClinGen
ExAC
gnomAD
CA358739556
rs1226755983
416 R>C No ClinGen
gnomAD
rs532326953
COSM1053187
CA3138420
416 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3138421
rs775316167
417 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358739566
rs1197415780
418 R>H No ClinGen
gnomAD
rs550251699
CA3138422
421 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs768544158
CA3138423
423 F>L No ClinGen
ExAC
gnomAD
CA109969612
rs1009032775
428 V>I No ClinGen
TOPMed
CA3138426
rs766374464
429 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA358739656
rs1560865650
432 I>V No ClinGen
Ensembl
rs1427706224
CA358739666
433 I>T No ClinGen
gnomAD
CA3138427
rs202171550
434 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1171946572
CA358739675
435 A>P No ClinGen
gnomAD
rs201222028
CA3138428
435 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1439120361
CA358739679
436 A>T No ClinGen
gnomAD
rs200247470
CA109969619
437 I>V No ClinGen
1000Genomes
CA3138429
rs767961312
439 A>G No ClinGen
ExAC
rs756569280
CA3138431
441 I>V No ClinGen
ExAC
gnomAD
rs1381933577
CA358739736
445 N>D No ClinGen
gnomAD
CA358739743
rs1395544199
446 P>A No ClinGen
TOPMed
rs1560865745
CA358739758
448 T>S No ClinGen
Ensembl
CA3138432
rs201828746
450 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA109969700
rs201059509
453 S>G No ClinGen
1000Genomes
rs1211568889
CA358739803
455 L>Q No ClinGen
gnomAD
rs375092988
CA3138436
455 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745499710
CA3138437
456 I>T No ClinGen
ExAC
gnomAD
CA358739813
rs1488685516
457 K>E No ClinGen
gnomAD
CA3138438
rs771755603
459 L>F No ClinGen
ExAC
gnomAD
CA358739832
rs1259256487
459 L>R No ClinGen
gnomAD
rs1429730307
CA358739863
464 G>S No ClinGen
gnomAD
rs1382303808
CA358739872
465 P>H No ClinGen
TOPMed
gnomAD
CA358739871
rs1170820199
465 P>T No ClinGen
TOPMed
gnomAD
CA358739919
rs1167546531
472 C>W No ClinGen
gnomAD
CA3138441
rs535022367
476 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA358739952
rs1177334780
477 D>Y No ClinGen
TOPMed
TCGA novel 480 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138442
rs776565829
481 S>G No ClinGen
ExAC
gnomAD
CA3138443
rs748101747
481 S>N No ClinGen
ExAC
gnomAD
rs1400661836
CA358739992
482 K>R No ClinGen
gnomAD
CA358739999
rs1292805255
483 I>T No ClinGen
gnomAD
TCGA novel 484 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138444
rs771031315
484 V>I No ClinGen
ExAC
gnomAD
rs1322046061
CA358740007
485 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 486 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138446
rs139779279
487 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA109969756
rs143120417
490 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
CA3138447
rs553052405
490 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358740046
rs553052405
490 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1482475586
CA358740063
493 G>D No ClinGen
TOPMed
rs761049815
CA3138449
494 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA3138450
rs764429156
494 I>T No ClinGen
ExAC
gnomAD
TCGA novel 495 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 497 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138451
rs754354048
498 S>L No ClinGen
ExAC
gnomAD
CA3138453
rs764776707
500 I>L No ClinGen
ExAC
gnomAD
CA358740114
rs1418824643
500 I>M No ClinGen
TOPMed
gnomAD
rs764776707
CA3138454
500 I>V No ClinGen
ExAC
gnomAD
TCGA novel 501 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1157430574
CA358740148
502 Q>L No ClinGen
gnomAD
rs1034994754
CA109969866
506 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 506 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146667280
CA3138455
508 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779627892
CA358740251
511 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1581263269
CA358740265
512 I>V No ClinGen
Ensembl
rs746670020
CA3138457
513 M>V No ClinGen
ExAC
gnomAD
CA3138458
rs754799105
515 V>I No ClinGen
ExAC
gnomAD
rs1392984486
CA358740340
516 F>L No ClinGen
TOPMed
CA3138459
rs568458140
518 F>S No ClinGen
1000Genomes
ExAC
gnomAD
CA358737755
rs1425661952
522 V>I No ClinGen
gnomAD
rs776936947
CA3138495
533 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA3138494
rs768722953
533 I>V No ClinGen
ExAC
gnomAD
CA3138496
rs762030200
535 A>V No ClinGen
ExAC
gnomAD
CA358738109
rs1192720795
536 I>T No ClinGen
TOPMed
CA358738119
rs1279604221
537 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM3674134
rs1237224362
CA358738147
538 G>R prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1198836526
CA358738227
541 V>A No ClinGen
TOPMed
rs934370424
CA109933884
543 I>F No ClinGen
TOPMed
rs773704301
CA3138498
544 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs751111899
CA3138501
545 V>M No ClinGen
ExAC
gnomAD
CA358738357
rs1210845188
548 L>V No ClinGen
gnomAD
CA358738385
rs1313353344
550 Y>F No ClinGen
TOPMed
CA3138502
rs759105108
550 Y>H No ClinGen
ExAC
gnomAD
rs767015898
CA3138503
551 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1218902825
CA358738414
552 H>R No ClinGen
gnomAD
CA358738432
rs1474916420
553 H>Q No ClinGen
TOPMed
gnomAD
rs755852057
CA3138505
554 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 560 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1163576029
CA358738694
572 G>V No ClinGen
gnomAD
rs1299648664
CA358738739
576 M>V No ClinGen
TOPMed
gnomAD
rs561414549
CA109933987
578 G>S No ClinGen
1000Genomes
rs367548875
CA3138509
579 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143673320
CA3138510
580 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA109936027
rs973376827
584 G>D No ClinGen
TOPMed
CA109936028
rs1005836702
585 G>S No ClinGen
Ensembl
CA358740393
rs1368319618
590 T>A No ClinGen
TOPMed
rs1324651173
CA358740402
590 T>S No ClinGen
TOPMed
rs149080175
CA3138532
595 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358740646
rs1394924170
611 M>T No ClinGen
gnomAD
CA3138537
rs746440784
612 A>S No ClinGen
ExAC
gnomAD
CA3138538
rs746440784
612 A>T No ClinGen
ExAC
gnomAD
rs1581275755
CA358740674
613 A>G No ClinGen
Ensembl
rs1172967866
CA358740719
616 T>I No ClinGen
TOPMed
CA358740781
rs1581275786
620 V>G No ClinGen
Ensembl
CA358740810
rs1439069322
623 A>T No ClinGen
gnomAD
rs1303661798
CA358740842
625 G>D No ClinGen
TOPMed
gnomAD
CA358740846
rs1303661798
625 G>V No ClinGen
TOPMed
gnomAD
rs1581275820
CA358740870
627 E>G No ClinGen
Ensembl
CA3138540
rs760290940
633 H>R No ClinGen
ExAC
gnomAD
CA3138541
rs143157406
634 I>V No ClinGen
ESP
ExAC
COSM171326
CA109936112
rs763040164
635 R>Q large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1200318733
CA358741047
644 A>T No ClinGen
gnomAD
CA358741088
rs750318734
646 E>D No ClinGen
ExAC
gnomAD
TCGA novel 647 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358741096
rs1189153280
COSM1053192
647 E>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs949049347
CA109936142
649 T>S No ClinGen
TOPMed
rs1480268486
CA358741138
650 H>P No ClinGen
TOPMed
rs1433300940
CA358741135
650 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA358741167
rs1581275975
652 T>P No ClinGen
Ensembl
CA3138547
rs199772997
653 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs544550257
CA109936170
654 A>S No ClinGen
1000Genomes
rs1422129392
CA358741197
655 A>T No ClinGen
gnomAD
rs1467583867
CA358741204
655 A>V No ClinGen
gnomAD
CA3138549
rs751365665
657 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1269700482
CA358741241
658 M>T No ClinGen
gnomAD
rs1053599827
CA109936180
660 P>L No ClinGen
TOPMed
rs981035966
CA109936185
661 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 662 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138550
rs777901937
663 N>S No ClinGen
ExAC
gnomAD
rs893619654
CA109936188
664 D>G No ClinGen
TOPMed
rs749575147
CA3138551
665 P>A No ClinGen
ExAC
gnomAD
CA3138552
rs757600494
666 P>S No ClinGen
ExAC
gnomAD
CA109936227
rs113417368
669 V>L No ClinGen
Ensembl
TCGA novel 672 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746329223
CA3138554
673 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA358741374
rs1338340614
674 N>H No ClinGen
gnomAD
rs756899030
CA3138555
675 M>R No ClinGen
ExAC
gnomAD
rs1020872770
CA109936254
675 M>V No ClinGen
TOPMed
CA358741464
rs1267750566
680 I>V No ClinGen
gnomAD
CA109936272
rs369710099
683 M>T No ClinGen
ESP
TOPMed
gnomAD
rs746462649
CA3138557
685 N>H No ClinGen
ExAC
gnomAD
rs1197219101
CA358741550
685 N>K No ClinGen
gnomAD
CA109936289
rs866989531
687 T>N No ClinGen
Ensembl
CA3138558
rs768288344
688 S>G No ClinGen
ExAC
gnomAD
CA358741721
rs1174554979
698 K>E No ClinGen
TOPMed
CA109936302
rs576336377
698 K>R No ClinGen
Ensembl
rs776419289
CA3138559
699 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TCGA novel 708 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1211249183
CA358741807
709 R>G No ClinGen
Ensembl
rs1362205071
CA358741809
709 R>K No ClinGen
TOPMed
rs1379685332
CA358742159
717 E>D No ClinGen
gnomAD
rs1445735089
CA358742162
718 S>G No ClinGen
gnomAD
CA358742185
rs1355347360
721 K>R No ClinGen
gnomAD
CA358742194
rs1240256113
722 K>R No ClinGen
gnomAD
TCGA novel 723 Q>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358742213
rs1278905593
725 G>S No ClinGen
gnomAD
CA3138588
rs761819807
726 I>N No ClinGen
ExAC
gnomAD
CA3138587
rs753874205
726 I>V No ClinGen
ExAC
gnomAD
CA109940326
rs971407708
727 V>A No ClinGen
Ensembl
CA3138590
rs145822355
727 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1177114072
CA358742234
729 S>G No ClinGen
gnomAD
CA3138591
rs758786674
731 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs758786674
CA358742250
731 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA109940345
rs758786674
731 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA358742264
rs1239714545
733 C>W No ClinGen
TOPMed
rs927567749
CA109940347
735 A>V No ClinGen
gnomAD
TCGA novel 737 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3138595
rs147028755
738 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358742304
rs1464928963
739 P>L No ClinGen
TOPMed
gnomAD
rs1359632160
CA358742301
739 P>S No ClinGen
gnomAD
CA109940363
rs901491111
740 S>P No ClinGen
TOPMed
CA3138597
rs769203426
741 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA358742385
rs1447149355
747 R>Q No ClinGen
gnomAD
CA358742406
rs1581286514
748 P>Q No ClinGen
Ensembl
CA3138598
rs201904904
752 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358742457
rs1409025280
752 R>Q No ClinGen
Ensembl
rs767634480
CA109940385
758 S>R No ClinGen
Ensembl
CA358742609
rs1241421595
761 T>A No ClinGen
TOPMed
CA358742644
rs1220421279
763 T>I No ClinGen
gnomAD
RCV000417121
rs770732784
CA3138600
768 M>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1458487009
CA358742812
771 V>M No ClinGen
gnomAD
CA358742853
rs1193297569
773 D>N No ClinGen
gnomAD
CA3138602
rs759355995
775 F>S No ClinGen
ExAC
gnomAD
CA358742944
rs1479067247
776 R>Q No ClinGen
TOPMed
gnomAD
CA358743076
rs1418525094
782 Q>R No ClinGen
gnomAD
CA3138606
rs765303593
788 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs199740610
CA109944529
790 R>C No ClinGen
gnomAD
CA358746808
rs771142045
790 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771142045
CA3138648
790 R>L No ClinGen
ExAC
gnomAD
rs955867200
CA109944533
800 I>T No ClinGen
Ensembl
rs370753183
CA3138650
800 I>V No ClinGen
ESP
ExAC
gnomAD
rs772530201
CA3138652
802 R>Q No ClinGen
ExAC
gnomAD
rs372151295
CA3138655
807 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358747397
rs1415421656
808 A>S No ClinGen
gnomAD
rs761305953
CA3138657
812 P>S No ClinGen
ExAC
gnomAD
rs556864442
CA3138659
813 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs201683703
CA3138660
815 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1231114163
CA358747678
816 M>V No ClinGen
gnomAD

2 associated diseases with P51790

[MIM: 619512]: Neurodevelopmental disorder with hypotonia and brain abnormalities (NEDHYBA)

An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 619517]: Neurodevelopmental disorder with seizures and brain abnormalities (NEDSBA)

An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant disorder characterized by onset in infancy or early childhood, global developmental delay, hypotonia, impaired intellectual development, and poor or absent speech. Additional variable manifestations may be present, including feeding difficulties, seizures, behavioral abnormalities, and non-specific dysmorphic facial features. Brain imaging shows variable abnormalities, including corpus callosum and cerebellar defects, and decreased white matter volume. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life, and structural brain defects on brain imaging. Additional features may include pigmentary retinopathy with poor visual fixation and spasticity. {ECO:0000269|PubMed:34186028}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P51790

Type Name Position InterPro Accession
domain Neurotransmitter-gated ion-channel transmembrane domain 252 - 479 IPR006029
domain Neurotransmitter-gated ion-channel ligand-binding domain 31 - 245 IPR006202
conserved_site Neurotransmitter-gated ion-channel, conserved site 154 - 168 IPR018000

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 1]: Early endosome membrane ; Multi-pass membrane protein
  • Late endosome membrane ; Multi-pass membrane protein
  • Lysosome membrane ; Multi-pass membrane protein
  • Cell membrane ; Multi-pass membrane protein
  • Isoform 1 is localized mainly in late endosomes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

30 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
axon terminus Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it.
cell surface The external part of the cell wall and/or plasma membrane.
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane The lipid bilayer surrounding an early endosome.
endosome membrane The lipid bilayer surrounding an endosome.
external side of plasma membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
GABA-ergic synapse A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
inhibitory synapse A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of synaptic vesicle membrane The component of the synaptic vesicle membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
late endosome A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
late endosome membrane The lipid bilayer surrounding a late endosome.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
phagocytic vesicle A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
ruffle membrane The portion of the plasma membrane surrounding a ruffle.
secretory granule A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules.
specific granule Granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.
synaptic vesicle A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell.

7 GO annotations of molecular function

Name Definition
antiporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out).
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chloride channel activity Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
PDZ domain binding Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.
solute:proton antiporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: solute(out) + H+(in) = solute(in) + H+(out).
voltage-gated chloride channel activity Enables the transmembrane transfer of a chloride ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.
volume-sensitive chloride channel activity Enables the transmembrane transfer of a chloride ion by a volume-sensitive channel. A volume-sensitive channel is a channel that responds to changes in the volume of a cell.

11 GO annotations of biological process

Name Definition
adult locomotory behavior Locomotory behavior in a fully developed and mature organism.
chloride transmembrane transport The process in which chloride is transported across a membrane.
endosomal lumen acidification Any process that reduces the pH of the endosomal lumen, measured by the concentration of the hydrogen ion.
negative regulation of cell volume Any process that decreases cell volume.
phagocytosis, engulfment The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.
photoreceptor cell maintenance Any process preventing the degeneration of the photoreceptor, a specialized cell type that is sensitive to light.
positive regulation of reactive oxygen species biosynthetic process Any process that activates or increases the frequency, rate or extent of reactive oxygen species biosynthetic process.
regulation of pH Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell.
synaptic transmission, GABAergic The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
synaptic transmission, glutamatergic The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
synaptic vesicle lumen acidification The acidification of the synaptic vesicle lumen via transport of protons into the vesicle. The resulting electrochemical gradient powers neurotransmitter loading.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P37020 GEF1 Anion/proton exchange transporter GEF1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P51797 CLCN6 H(+)/Cl(-) exchange transporter 6 Homo sapiens (Human) PR
P51798 CLCN7 H(+)/Cl(-) exchange transporter 7 Homo sapiens (Human) PR
O70496 Clcn7 H(+)/Cl(-) exchange transporter 7 Mus musculus (Mouse) PR
Q61418 Clcn4 H(+)/Cl(-) exchange transporter 4 Mus musculus (Mouse) PR
P51791 Clcn3 H(+)/Cl(-) exchange transporter 3 Mus musculus (Mouse) PR
P51799 Clcn7 H(+)/Cl(-) exchange transporter 7 Rattus norvegicus (Rat) PR
P51792 Clcn3 H(+)/Cl(-) exchange transporter 3 Rattus norvegicus (Rat) PR
P60300 CLC-G Putative chloride channel-like protein CLC-g Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MESEQLFHRG YYRNSYNSIT SASSDEELLD GAGVIMDFQT SEDDNLLDGD TAVGTHYTMT
70 80 90 100 110 120
NGGSINSSTH LLDLLDEPIP GVGTYDDFHT IDWVREKCKD RERHRRINSK KKESAWEMTK
130 140 150 160 170 180
SLYDAWSGWL VVTLTGLASG ALAGLIDIAA DWMTDLKEGI CLSALWYNHE QCCWGSNETT
190 200 210 220 230 240
FEERDKCPQW KTWAELIIGQ AEGPGSYIMN YIMYIFWALS FAFLAVSLVK VFAPYACGSG
250 260 270 280 290 300
IPEIKTILSG FIIRGYLGKW TLMIKTITLV LAVASGLSLG KEGPLVHVAC CCGNIFSYLF
310 320 330 340 350 360
PKYSTNEAKK REVLSAASAA GVSVAFGAPI GGVLFSLEEV SYYFPLKTLW RSFFAALVAA
370 380 390 400 410 420
FVLRSINPFG NSRLVLFYVE YHTPWYLFEL FPFILLGVFG GLWGAFFIRA NIAWCRRRKS
430 440 450 460 470 480
TKFGKYPVLE VIIVAAITAV IAFPNPYTRL NTSELIKELF TDCGPLESSS LCDYRNDMNA
490 500 510 520 530 540
SKIVDDIPDR PAGIGVYSAI WQLCLALIFK IIMTVFTFGI KVPSGLFIPS MAIGAIAGRI
550 560 570 580 590 600
VGIAVEQLAY YHHDWFIFKE WCEVGADCIT PGLYAMVGAA ACLGGVTRMT VSLVVIVFEL
610 620 630 640 650 660
TGGLEYIVPL MAAVMTSKWV GDAFGREGIY EAHIRLNGYP FLDAKEEFTH TTLAADVMRP
670 680 690 700 710 720
RRNDPPLAVL TQDNMTVDDI ENMINETSYN GFPVIMSKES QRLVGFALRR DLTIAIESAR
730 740 750 760 770 780
KKQEGIVGSS RVCFAQHTPS LPAESPRPLK LRSILDMSPF TVTDHTPMEI VVDIFRKLGL
790 800 810
RQCLVTHNGR LLGIITKKDI LRHMAQTANQ DPASIMFN