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 Q9UBL9

Entry ID Method Resolution Chain Position Source
AF-Q9UBL9-F1 Predicted AlphaFoldDB

446 variants for Q9UBL9

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_070687
rs587777692
CA170678
RCV000143842
60 V>L Autosomal dominant nonsyndromic hearing loss 41 DFNA41; found in heterozygous status in patients; abolished ATP-stimulated permeability [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs2041656946
RCV001197577
302 R>T Autosomal dominant nonsyndromic hearing loss 41 [ClinVar] Yes ClinVar
dbSNP
RCV001809849
RCV002536052
rs761180947
RCV000825423
CA6891732
315 R>C Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA6891795
RCV002512553
RCV000143843
rs202138002
RCV001268412
CA170681
VAR_070688
353 G>R Autosomal dominant nonsyndromic hearing loss 41 DFNA41 [ClinVar, UniProt] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
UniProt
CA6891893
RCV000216083
rs115260724
RCV002517491
437 R>Q Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000888770
rs876657423
RCV002500690
RCV000217739
441 I>* Autosomal dominant nonsyndromic hearing loss 41 [ClinVar] Yes ClinVar
dbSNP
CA6891902
rs199955493
RCV002529353
RCV000992498
COSM937247
RCV000606884
455 E>K endometrium Inborn genetic diseases [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000842305
RCV002538325
rs369100205
CA6891909
470 Q>R Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6891298
rs751112633
3 A>S No ClinGen
ExAC
gnomAD
CA6891300
rs780770339
4 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs1049362534
CA246277235
4 A>S No ClinGen
TOPMed
CA387356513
rs780770339
4 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1466604811
CA387356519
5 Q>R No ClinGen
TOPMed
CA6891302
rs756595753
6 P>T No ClinGen
ExAC
gnomAD
CA6891303
rs780673709
10 A>S No ClinGen
ExAC
gnomAD
CA6891305
CA387356575
rs768809175
11 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA6891308
rs772335034
12 A>E No ClinGen
ExAC
gnomAD
rs748252581
CA6891307
12 A>T No ClinGen
ExAC
gnomAD
rs1286367250
CA387356605
14 A>P No ClinGen
TOPMed
gnomAD
CA387356611
rs1294719479
14 A>V No ClinGen
TOPMed
CA387356617
rs1194591563
15 R>Q No ClinGen
gnomAD
rs762889627
CA6891313
16 R>L No ClinGen
ExAC
gnomAD
CA387356624
rs762889627
16 R>P No ClinGen
ExAC
gnomAD
CA246277311
rs940571411
19 R>G No ClinGen
TOPMed
gnomAD
CA6891314
rs369473481
19 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1232778680
CA387356652
20 G>S No ClinGen
TOPMed
gnomAD
rs571646540
CA6891315
RCV000912878
21 C>Y No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA387356675
rs1382780227
22 W>R No ClinGen
gnomAD
CA6891317
rs767176552
24 A>T No ClinGen
ExAC
gnomAD
CA6891318
rs750081606
25 L>I No ClinGen
ExAC
gnomAD
CA387356743
rs1327987786
27 D>E No ClinGen
gnomAD
CA387356756
rs756505870
29 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA6891320
rs756505870
29 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA387356784
rs1444250367
31 P>R No ClinGen
gnomAD
rs780589773
CA246277323
32 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs780589773
CA6891321
32 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs754340878
CA6891322
33 V>M No ClinGen
ExAC
gnomAD
rs755546826
CA6891323
34 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs748249759
CA6891325
35 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748249759
CA387356819
35 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs772097454
CA6891326
36 V>M No ClinGen
ExAC
gnomAD
CA387356862
rs778028145
39 R>W No ClinGen
ExAC
gnomAD
CA387356870
rs747266387
40 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6891328
rs747266387
40 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA387356888
rs1344834715
42 G>E No ClinGen
gnomAD
rs865908587
CA246277374
42 G>R No ClinGen
Ensembl
CA6891329
rs769517188
43 V>I No ClinGen
ExAC
gnomAD
rs775265363
CA387356902
44 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs762799314
CA6891331
45 Y>C No ClinGen
ExAC
gnomAD
rs774203714
CA6891334
46 R>C No ClinGen
ExAC
gnomAD
CA6891335
rs766964714
46 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6891333
rs774203714
46 R>S No ClinGen
ExAC
gnomAD
rs1342253894
CA387356930
47 A>P No ClinGen
TOPMed
rs754250856
CA6891340
54 L>H No ClinGen
ExAC
gnomAD
rs755357127
CA6891342
56 F>L No ClinGen
ExAC
gnomAD
CA387357242
rs1450203972
60 V>G No ClinGen
TOPMed
CA6891390
rs770608674
62 I>T No ClinGen
ExAC
gnomAD
CA387357304
rs1182471953
63 V>A No ClinGen
gnomAD
rs1222699160
CA387357367
66 S>N No ClinGen
TOPMed
CA387357374
rs1566291007
66 S>R No ClinGen
Ensembl
CA6891392
rs759136054
68 Q>E No ClinGen
ExAC
gnomAD
COSM468041
rs1161893145
CA387357432
69 E>D kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs765582415
CA6891393
69 E>G No ClinGen
ExAC
gnomAD
CA387357419
rs1318988782
69 E>K No ClinGen
TOPMed
gnomAD
rs1365261530
CA387357448
70 S>N No ClinGen
gnomAD
RCV000971603
rs143664462
CA6891394
RCV000214475
71 E>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6891395
rs763428922
72 T>M No ClinGen
ExAC
gnomAD
CA387357570
rs1378403948
75 E>G No ClinGen
gnomAD
rs752100041
CA6891397
75 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1243223620
CA387357591
76 S>T No ClinGen
gnomAD
CA387357607
rs1313883312
77 S>A No ClinGen
gnomAD
CA387357627
rs1359774252
78 I>N No ClinGen
gnomAD
CA6891398
rs757287535
81 K>R No ClinGen
ExAC
gnomAD
rs1231060654
CA387357706
82 V>I No ClinGen
TOPMed
CA6891399
rs767604732
83 K>E No ClinGen
ExAC
gnomAD
CA246277812
rs867830031
84 G>E No ClinGen
Ensembl
CA387357793
rs1196243674
86 T>P No ClinGen
gnomAD
CA6891401
rs756296304
89 E>K No ClinGen
ExAC
gnomAD
rs1437841625
CA387357888
91 K>E No ClinGen
Ensembl
rs780392555
CA6891402
91 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA387357904
rs1405704906
92 V>M No ClinGen
TOPMed
rs1370219643
CA387357931
93 W>* No ClinGen
TOPMed
CA387357948
rs1167213231
94 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA387357947
rs1306205231
94 D>G No ClinGen
TOPMed
rs368657470
CA246277827
95 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
CA6891404
rs200706884
96 E>K No ClinGen
ExAC
gnomAD
rs200706884
CA246277834
96 E>Q No ClinGen
ExAC
gnomAD
CA6891406
rs371733590
98 Y>* No ClinGen
ESP
ExAC
gnomAD
CA6891409
rs745447786
101 P>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1219040
rs776297473
CA6891408
101 P>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6891410
rs769315673
102 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA387358160
rs1404170850
104 G>A No ClinGen
gnomAD
rs755529218
CA6891453
104 G>R No ClinGen
ExAC
gnomAD
rs755529218
CA387358152
104 G>W No ClinGen
ExAC
gnomAD
CA387358171
rs1283847492
105 G>C No ClinGen
gnomAD
COSM937244
CA6891454
rs779626821
105 G>D Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387358176
rs779626821
105 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA246278053
rs897663807
106 S>G No ClinGen
gnomAD
CA246278063
rs993254582
108 F>V No ClinGen
Ensembl
rs1217541785
CA387358303
111 I>T No ClinGen
TOPMed
gnomAD
CA387358327
rs1288493239
113 R>G No ClinGen
gnomAD
CA246278100
rs768292150
113 R>K No ClinGen
ExAC
gnomAD
CA6891457
rs768292150
113 R>T No ClinGen
ExAC
gnomAD
CA387358337
rs1199199574
114 V>I No ClinGen
gnomAD
rs778595438
CA6891458
115 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs748489580
CA387358372
116 A>P No ClinGen
ExAC
gnomAD
rs748489580
CA6891459
116 A>T No ClinGen
ExAC
gnomAD
rs1406523346
CA387358410
118 H>N No ClinGen
TOPMed
gnomAD
CA387358444
rs1385389415
120 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs773553832
CA6891461
122 Q>* No ClinGen
ExAC
gnomAD
rs1363404381
CA387358510
123 G>V No ClinGen
gnomAD
rs1423738254
CA387358534
125 C>Y No ClinGen
gnomAD
CA6891477
rs758644003
129 I>M No ClinGen
ExAC
gnomAD
rs933215158
CA246278226
130 R>K No ClinGen
TOPMed
CA6891478
rs778216098
130 R>S No ClinGen
ExAC
gnomAD
rs747412485
CA6891479
131 V>A No ClinGen
ExAC
CA387358697
rs1458565943
131 V>L No ClinGen
TOPMed
gnomAD
CA6891480
rs771468485
132 H>Q No ClinGen
ExAC
rs777322684
CA6891481
133 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs201946408
CA387358741
CA6891485
133 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1555298312
CA6891482
133 N>T No ClinGen
Ensembl
rs775802539
CA6891486
134 A>P No ClinGen
ExAC
CA387358755
rs1187798176
134 A>V No ClinGen
gnomAD
rs201624265
CA6891488
135 T>P No ClinGen
ExAC
gnomAD
CA387358769
rs1447530745
135 T>S No ClinGen
TOPMed
CA387358791
rs1566292794
137 L>V No ClinGen
Ensembl
rs1421546883
CA387358821
139 D>G No ClinGen
TOPMed
rs767148641
CA6891489
139 D>N No ClinGen
ExAC
gnomAD
CA387358851
rs1174191721
141 D>N No ClinGen
gnomAD
COSM547331
RCV000906332
CA6891491
rs201447971
142 C>* lung [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA6891490
rs773055213
142 C>G No ClinGen
ExAC
gnomAD
CA387358890
rs1477570064
143 V>M No ClinGen
TOPMed
CA387358917
rs1335103701
144 A>G No ClinGen
gnomAD
rs1490904423
CA387358955
147 L>R No ClinGen
TOPMed
rs1220456657
CA387358949
147 L>V No ClinGen
TOPMed
CA387358961
rs1429039242
148 D>Y No ClinGen
gnomAD
CA6891494
rs754447386
149 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA387358998
rs1261873488
150 L>P No ClinGen
gnomAD
CA387359034
rs1280267333
153 G>R No ClinGen
TOPMed
gnomAD
rs1280267333
CA387359032
153 G>S No ClinGen
TOPMed
gnomAD
CA6891514
rs759486441
153 G>V No ClinGen
ExAC
rs764662677
CA6891515
154 L>M No ClinGen
ExAC
CA6891517
rs762431208
156 T>A No ClinGen
ExAC
gnomAD
CA387359152
rs1238883862
157 G>E No ClinGen
TOPMed
gnomAD
rs757589735
CA6891520
157 G>R No ClinGen
ExAC
gnomAD
rs1355473679
CA387359164
158 R>P No ClinGen
gnomAD
rs1309494741
CA387359158
158 R>S No ClinGen
gnomAD
rs1040273671
CA246278412
159 C>S No ClinGen
Ensembl
CA387359171
rs1243349754
159 C>Y No ClinGen
TOPMed
gnomAD
CA6891521
rs781698979
160 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs113796218
CA246278413
161 P>L No ClinGen
Ensembl
rs1488690731
CA387359222
164 Q>* No ClinGen
gnomAD
RCV000595698
CA6891522
rs142844880
RCV000891492
164 Q>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1248411244
CA387359238
165 G>E No ClinGen
gnomAD
rs868398885
CA246278419
166 P>T No ClinGen
Ensembl
CA246278433
rs1005850083
168 K>R No ClinGen
TOPMed
gnomAD
CA387359281
rs1470098705
169 T>P No ClinGen
TOPMed
rs1161911268
CA387359303
170 C>* No ClinGen
TOPMed
gnomAD
CA387359298
rs1441732800
170 C>S No ClinGen
TOPMed
gnomAD
CA387359296
rs1441732800
170 C>Y No ClinGen
TOPMed
gnomAD
rs1368201924
CA387359309
171 E>K No ClinGen
TOPMed
gnomAD
rs768659294
CA6891526
172 V>A No ClinGen
ExAC
gnomAD
rs1593672871
CA387359372
176 C>G No ClinGen
Ensembl
CA387359391
rs1243244611
177 P>L No ClinGen
TOPMed
gnomAD
CA387359386
rs1378517657
177 P>S No ClinGen
gnomAD
CA387359384
rs1378517657
177 P>T No ClinGen
gnomAD
rs1593672989
CA387359404
178 V>G No ClinGen
Ensembl
CA387359418
rs1593673034
179 E>G No ClinGen
Ensembl
rs1177876055
CA387359415
179 E>K No ClinGen
TOPMed
rs1593673080
CA387359431
180 D>A No ClinGen
Ensembl
CA387359426
rs1322093137
180 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6891530
rs776417946
183 S>P No ClinGen
ExAC
gnomAD
rs1206194739
CA387359479
184 V>I No ClinGen
TOPMed
CA387359547
rs1218603920
186 Q>L No ClinGen
gnomAD
CA6891563
rs755446993
190 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1212494134
CA387359597
190 T>M No ClinGen
TOPMed
gnomAD
CA387359614
rs1217865324
191 M>I No ClinGen
TOPMed
gnomAD
CA246278713
rs879315490
191 M>T No ClinGen
TOPMed
gnomAD
rs1488591899
CA387359634
193 P>A No ClinGen
gnomAD
CA6891566
rs150826932
193 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387359650
rs1300334539
194 N>D No ClinGen
TOPMed
rs561154892
CA6891568
203 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA6891569
rs747250212
204 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1299761086
CA387359797
204 H>Y No ClinGen
gnomAD
rs755843325
CA6891570
209 H>Y No ClinGen
ExAC
gnomAD
rs779715451
CA6891571
211 S>C No ClinGen
ExAC
gnomAD
CA6891603
rs201108603
213 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6891602
rs776397183
213 G>S No ClinGen
ExAC
gnomAD
CA6891605
rs775913429
216 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6891607
rs764649989
217 D>H No ClinGen
ExAC
gnomAD
CA387359923
rs1331098154
218 R>G No ClinGen
gnomAD
CA246278941
rs896555087
218 R>H No ClinGen
gnomAD
rs896555087
CA387359925
218 R>L No ClinGen
gnomAD
CA6891608
rs751623269
219 T>K No ClinGen
ExAC
gnomAD
rs1285116295
CA387359938
220 D>H No ClinGen
gnomAD
CA387359948
COSM1706469
rs1217280554
221 G>E skin [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1593675654
CA387359956
222 Y>D No ClinGen
Ensembl
rs1336498754
CA387360002
224 K>N No ClinGen
TOPMed
rs202099523
CA387360005
225 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs202099523
CA6891610
225 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1042398570
CA246279004
225 R>P No ClinGen
TOPMed
CA387360025
rs1275919121
226 C>F No ClinGen
gnomAD
rs1187819303
CA387360042
227 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA387360057
rs926889066
228 F>C No ClinGen
TOPMed
gnomAD
rs926889066
CA246279023
228 F>Y No ClinGen
TOPMed
gnomAD
rs778864820
CA6891614
230 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs778864820
CA387360087
230 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1169677348
CA387360102
231 A>T No ClinGen
gnomAD
CA246279038
rs1001134980
232 S>F No ClinGen
TOPMed
gnomAD
CA387360139
rs1593676004
233 D>G No ClinGen
Ensembl
CA387360130
rs1335122722
COSM170321
233 D>N Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA6891617
rs777917433
234 L>I No ClinGen
ExAC
gnomAD
rs777917433
CA6891618
234 L>V No ClinGen
ExAC
gnomAD
CA6891619
rs770518108
235 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs111640791
CA6891622
236 C>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6891620
rs780672257
236 C>G No ClinGen
ExAC
gnomAD
CA6891623
rs775821442
238 I>L No ClinGen
ExAC
CA6891624
rs763377408
240 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA6891627
rs149982621
243 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1263659153
CA387360599
244 I>V No ClinGen
TOPMed
gnomAD
rs114874649
CA387360607
245 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs114874649
CA6891629
245 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1381392334
CA387360627
246 E>D No ClinGen
TOPMed
gnomAD
rs201299665
CA6891630
246 E>G No ClinGen
ExAC
gnomAD
rs1017390453
CA246279096
248 A>P No ClinGen
Ensembl
rs760963996
CA6891631
249 G>R No ClinGen
ExAC
gnomAD
rs144300117
CA6891633
254 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387360738
rs890204509
255 L>F No ClinGen
TOPMed
gnomAD
CA246279169
rs890204509
255 L>I No ClinGen
TOPMed
gnomAD
rs777827527
CA387360755
256 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1329997785
CA387360751
256 A>T No ClinGen
TOPMed
gnomAD
rs777827527
CA6891635
256 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6891636
rs751533519
257 H>P No ClinGen
ExAC
gnomAD
rs1350990565
CA387360770
257 H>Q No ClinGen
gnomAD
rs751533519
CA6891637
257 H>R No ClinGen
ExAC
gnomAD
rs1239019079
CA387360776
258 K>E No ClinGen
gnomAD
CA6891638
rs780770913
258 K>T No ClinGen
ExAC
gnomAD
CA6891666
rs772626924
259 G>S No ClinGen
ExAC
gnomAD
rs1396383678
CA387360878
260 G>D No ClinGen
TOPMed
CA6891668
rs747061410
261 V>D No ClinGen
ExAC
TOPMed
gnomAD
CA246279733
rs1002580420
262 I>F No ClinGen
TOPMed
CA387360890
rs1002580420
262 I>L No ClinGen
TOPMed
rs1256150653
CA387360907
263 G>E No ClinGen
gnomAD
rs949158238
CA246279737
263 G>R No ClinGen
gnomAD
rs776950275
CA6891670
264 V>F No ClinGen
ExAC
gnomAD
CA387360917
rs1593679482
264 V>G No ClinGen
Ensembl
CA387360921
rs1198143288
265 I>V No ClinGen
TOPMed
gnomAD
CA387360947
rs1555299075
RCV000602234
267 N>S No ClinGen
ClinVar
Ensembl
dbSNP
CA6891672
rs765617121
268 W>* No ClinGen
ExAC
gnomAD
rs774195280
CA6891673
269 D>N No ClinGen
ExAC
gnomAD
CA6891674
rs761556179
269 D>V No ClinGen
ExAC
gnomAD
rs750351580
CA6891676
273 D>A No ClinGen
ExAC
gnomAD
rs767470753
CA6891675
273 D>Y No ClinGen
ExAC
gnomAD
rs1477199641
CA387361026
274 L>P No ClinGen
gnomAD
rs1170481095
CA387361039
275 P>L No ClinGen
gnomAD
CA6891677
rs200403901
276 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1479255984
CA387361046
276 A>V No ClinGen
TOPMed
rs1033799448
CA246279769
277 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1402634738
CA387361062
278 E>G No ClinGen
gnomAD
CA6891679
rs753431309
278 E>K No ClinGen
ExAC
CA6891680
rs377716077
279 C>R No ClinGen
ESP
ExAC
gnomAD
CA6891681
rs778495685
281 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1296306441
CA387361120
283 Y>* No ClinGen
TOPMed
gnomAD
rs1309350359
CA387361127
284 S>Y No ClinGen
gnomAD
CA246279850
rs936722841
285 F>S No ClinGen
Ensembl
CA6891684
COSM1219041
rs148198140
286 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs201472876
CA6891683
286 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6891686
rs771064092
287 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA387361169
rs1182169219
288 L>R No ClinGen
gnomAD
rs1421005550
CA387361176
289 D>G No ClinGen
TOPMed
gnomAD
rs746015866
CA6891688
289 D>H No ClinGen
ExAC
gnomAD
rs987761577
CA246279871
290 P>L No ClinGen
TOPMed
CA387361199
rs1431016095
291 K>R No ClinGen
gnomAD
CA387361214
rs770029505
292 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1395355942
CA387361218
293 V>M No ClinGen
gnomAD
rs140717688
CA6891690
296 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6891693
rs771795205
300 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1165633659
CA387361336
303 F>L No ClinGen
TOPMed
gnomAD
RCV000607707
CA387361348
rs1555299245
304 A>T No ClinGen
ClinVar
Ensembl
dbSNP
rs756154743
CA6891726
305 K>E No ClinGen
ExAC
TOPMed
rs756154743
CA387361358
305 K>Q No ClinGen
ExAC
TOPMed
rs1395302805
CA387361376
306 Y>C No ClinGen
TOPMed
gnomAD
rs1443480855
CA387361370
306 Y>N No ClinGen
TOPMed
gnomAD
rs1395302805
CA387361375
306 Y>S No ClinGen
TOPMed
gnomAD
CA6891727
rs115331525
RCV000607950
RCV000917259
308 K>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs115331525
CA6891729
308 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1291282397
CA387361414
309 I>M No ClinGen
TOPMed
rs755150600
CA6891730
310 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1335340034
CA387361433
311 G>D No ClinGen
gnomAD
rs1279689415
CA387361440
312 T>A No ClinGen
TOPMed
CA387361446
rs1218881312
312 T>I No ClinGen
TOPMed
rs1281596429
CA387361465
314 T>I No ClinGen
gnomAD
rs372363857
CA6891733
315 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150293706
CA6891734
RCV000591945
316 T>M No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1045973450
CA246280194
318 I>M No ClinGen
TOPMed
rs1256881029
CA387361536
320 A>G No ClinGen
gnomAD
CA6891737
rs201474543
RCV000217399
COSM430768
RCV002519645
322 G>R breast [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1247799438
CA387361569
322 G>V No ClinGen
TOPMed
rs762568711
CA6891738
COSM3980930
324 R>C ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6891739
rs147592928
324 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1476809388
CA387361613
325 I>M No ClinGen
TOPMed
gnomAD
CA6891740
rs116100744
325 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs116655914
CA246280220
326 D>G No ClinGen
1000Genomes
rs970612038
CA246280217
326 D>H No ClinGen
Ensembl
CA6891742
rs768000181
327 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs139357505
CA6891744
328 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs76780477
CA246280242
328 I>V No ClinGen
Ensembl
rs756566127
CA6891745
329 V>A No ClinGen
ExAC
gnomAD
CA6891746
rs766978115
330 H>R No ClinGen
ExAC
gnomAD
CA387361675
rs1278820297
330 H>Y No ClinGen
TOPMed
rs755133605
CA6891748
332 Q>* No ClinGen
ExAC
gnomAD
CA387361920
rs1255196667
333 A>V No ClinGen
gnomAD
rs771356090
CA6891787
334 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs760899409
CA6891786
334 G>R No ClinGen
ExAC
gnomAD
rs771356090
CA387361938
334 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1046081833
CA246280470
336 F>C No ClinGen
Ensembl
rs561894191
CA6891788
337 S>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1162029392
CA387361999
338 L>P No ClinGen
gnomAD
rs1555299483
CA387362014
RCV000614281
339 I>F No ClinGen
ClinVar
Ensembl
dbSNP
rs906167465
CA246280483
340 P>L No ClinGen
Ensembl
rs1393057195
CA387362059
342 I>V No ClinGen
gnomAD
rs1314648954
CA387362124
346 A>V No ClinGen
TOPMed
rs752766258
CA6891791
350 T>I No ClinGen
ExAC
gnomAD
rs775460016
RCV000908592
CA6891793
352 V>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA387363062
rs1486261484
357 F>C No ClinGen
gnomAD
CA6891818
rs752713564
358 L>P No ClinGen
ExAC
gnomAD
CA6891821
rs746554350
359 C>* No ClinGen
ExAC
TOPMed
gnomAD
rs1170700205
CA387363071
359 C>R No ClinGen
gnomAD
rs777355172
CA6891820
359 C>Y No ClinGen
ExAC
gnomAD
CA6891825
rs770177827
360 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs780860942
CA387363076
360 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs780860942
CA6891823
360 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6891824
rs780860942
360 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1296309697
CA387363084
361 W>* No ClinGen
gnomAD
CA6891827
rs775913281
362 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA246280700
rs983002437
362 I>V No ClinGen
Ensembl
RCV000607612
CA6891828
rs749812549
364 L>V No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA387363111
rs1309414461
365 T>I No ClinGen
gnomAD
rs201485923
CA6891829
366 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387363124
CA6891830
rs774485135
367 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs201321737
CA246280727
367 M>K No ClinGen
Ensembl
rs201321737
CA246280725
367 M>R No ClinGen
Ensembl
CA246280737
rs113241189
369 K>R No ClinGen
Ensembl
CA246280739
rs941562361
370 N>H No ClinGen
Ensembl
rs1349107834
CA387363153
371 K>N No ClinGen
gnomAD
CA246280741
rs1033258318
372 V>D No ClinGen
TOPMed
rs1213601122
CA387363157
372 V>F No ClinGen
TOPMed
gnomAD
rs1213601122
CA387363155
372 V>I No ClinGen
TOPMed
gnomAD
CA6891835
rs773590042
373 Y>F No ClinGen
ExAC
gnomAD
CA6891833
rs767759087
373 Y>H No ClinGen
ExAC
gnomAD
CA6891834
rs773590042
373 Y>S No ClinGen
ExAC
gnomAD
CA387363168
rs1593684649
374 S>N No ClinGen
Ensembl
CA6891836
rs773934258
375 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs893386902
CA246280758
376 K>* No ClinGen
TOPMed
rs1279125378
CA387363182
376 K>T No ClinGen
TOPMed
CA6891837
rs143626910
378 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6891839
rs764001111
379 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA6891838
rs114151103
379 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1329757630
CA387363219
381 V>A No ClinGen
TOPMed
CA246280777
rs761552731
381 V>M No ClinGen
Ensembl
rs548457571
CA6891842
382 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs370189963
CA6891844
383 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6891846
rs148054613
384 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387363244
rs1237030479
385 S>R No ClinGen
gnomAD
CA6891849
rs553849528
388 S>P No ClinGen
1000Genomes
ExAC
gnomAD
rs1217163568
CA387363288
391 W>* No ClinGen
gnomAD
rs878899758
CA246280827
391 W>R No ClinGen
Ensembl
CA6891850
rs772308854
392 P>S No ClinGen
ExAC
gnomAD
rs760990570
CA6891852
395 L>P No ClinGen
ExAC
gnomAD
rs556494905
CA6891854
397 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs556494905
CA387363359
397 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs141857771
CA6891855
397 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1593685219
CA387363375
398 V>E No ClinGen
Ensembl
CA387363370
rs1273956077
398 V>I No ClinGen
TOPMed
CA6891857
rs751486651
399 L>F No ClinGen
ExAC
RCV000518988
CA246280853
rs759939326
400 G>R No ClinGen
ClinVar
dbSNP
gnomAD
rs1011180649
CA246280854
401 Q>* No ClinGen
gnomAD
CA6891858
rs373803068
401 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767032379
CA6891859
402 A>D No ClinGen
ExAC
gnomAD
CA387363434
rs1459999983
402 A>S No ClinGen
gnomAD
rs755760731
CA387363471
405 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs779722185
CA387363479
CA6891862
405 E>D No ClinGen
ExAC
gnomAD
CA6891861
rs755760731
405 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6891863
rs754210919
406 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA246280908
rs867974944
407 G>D No ClinGen
gnomAD
rs199712315
CA6891865
RCV000220673
407 G>S No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs140087499
CA6891866
409 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772221200
CA6891867
COSM3688079
409 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6891870
rs200711869
411 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6891871
rs776765359
411 E>V No ClinGen
ExAC
gnomAD
RCV000222087
rs374200273
CA6891872
412 D>H No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6891873
rs572316980
413 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1593685762
CA387363603
414 H>P No ClinGen
Ensembl
rs1164255695
CA387363615
415 P>S No ClinGen
gnomAD
rs879170214
CA246280942
416 S>R No ClinGen
gnomAD
CA6891875
rs541181992
416 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1194935507
CA387363650
418 P>L No ClinGen
gnomAD
CA246280952
rs1040866936
420 G>S No ClinGen
TOPMed
gnomAD
rs749905641
CA6891877
422 E>D No ClinGen
ExAC
gnomAD
CA387363707
rs1160442460
423 G>S No ClinGen
TOPMed
CA6891878
rs760228414
424 Q>* No ClinGen
ExAC
gnomAD
CA387363724
rs1441268023
424 Q>H No ClinGen
gnomAD
rs146366658
CA6891879
425 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368368224
CA246280982
425 Q>H No ClinGen
ESP
TOPMed
gnomAD
CA387363738
rs1293314878
426 G>R No ClinGen
gnomAD
rs755302767
CA6891881
427 A>T No ClinGen
ExAC
gnomAD
CA387363758
rs1307844378
428 E>K No ClinGen
gnomAD
rs1307844378
CA387363760
428 E>Q No ClinGen
gnomAD
CA246280999
rs992121099
428 E>V No ClinGen
Ensembl
rs753164240
CA6891884
430 G>C No ClinGen
ExAC
gnomAD
rs1485277585
CA387363783
430 G>D No ClinGen
gnomAD
rs753164240
CA387363781
430 G>S No ClinGen
ExAC
gnomAD
CA6891885
rs564037943
431 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6891886
rs116421542
432 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387363797
rs1258282432
432 A>T No ClinGen
gnomAD
CA387363802
rs116421542
432 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387363815
rs747059527
433 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA6891888
rs757432630
434 P>L No ClinGen
ExAC
gnomAD
rs1353166905
CA387363818
434 P>S No ClinGen
TOPMed
CA6891890
rs746094191
435 P>L No ClinGen
ExAC
gnomAD
CA387363841
rs1314064244
436 L>P No ClinGen
gnomAD
CA6891892
rs372642283
437 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1339575034
CA387363852
438 P>A No ClinGen
TOPMed
gnomAD
CA387363853
rs1339575034
438 P>S No ClinGen
TOPMed
gnomAD
rs1339575034
CA387363851
438 P>T No ClinGen
TOPMed
gnomAD
CA6891896
rs773157753
441 I>L No ClinGen
ExAC
TOPMed
rs1230191772
CA387363904
442 S>F No ClinGen
gnomAD
CA387363922
rs1277899873
444 P>L No ClinGen
gnomAD
rs981868579
CA246281067
444 P>S No ClinGen
Ensembl
CA387363929
rs1211507168
445 S>F No ClinGen
gnomAD
rs1445225053
CA387363934
446 E>K No ClinGen
gnomAD
CA6891899
rs776287649
448 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1241625388
CA387363997
451 T>A No ClinGen
gnomAD
CA387364018
rs1402757753
453 A>T No ClinGen
gnomAD
CA387364023
rs1161219750
453 A>V No ClinGen
TOPMed
CA246281104
rs79467877
454 S>P No ClinGen
Ensembl
CA387364048
rs1566301987
457 A>T No ClinGen
Ensembl
rs758878194
CA6891903
459 A>T No ClinGen
ExAC
gnomAD
CA6891905
rs368231244
459 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1399468114
CA387364107
465 P>S No ClinGen
gnomAD
rs1326556794
CA387364114
466 K>Q No ClinGen
gnomAD
CA387364134
rs1289837293
467 G>V No ClinGen
TOPMed
CA387364143
rs1358975414
468 L>F No ClinGen
TOPMed
CA6891908
rs781121767
468 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs369100205
CA387364161
470 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780374044
CA6891911
472 L>R No ClinGen
ExAC
gnomAD

1 associated diseases with Q9UBL9

[MIM: 608224]: Deafness, autosomal dominant, 41 (DFNA41)

A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269|PubMed:23345450, ECO:0000269|PubMed:24211385}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of non-syndromic deafness characterized by onset of progressive sensorineural hearing loss usually in the second decade. The hearing loss is severe and ultimately affects all frequencies. Exposure to noise exacerbates the hearing loss, particularly at high frequencies. {ECO:0000269|PubMed:23345450, ECO:0000269|PubMed:24211385}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9UBL9

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9UBL9

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Localizes to the apical membranes of hair cells in the organ of Corti
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
integral component of nuclear inner membrane The component of the nuclear inner 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.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse The part of a synapse that is part of the post-synaptic cell.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
extracellularly ATP-gated cation channel activity Enables the transmembrane transfer of a cation by a channel that opens when ATP is bound by the channel complex or one of its constituent parts on the extracellular side of the plasma membrane.
identical protein binding Binding to an identical protein or proteins.
ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.
purinergic nucleotide receptor activity Combining with a purine nucleotide and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

15 GO annotations of biological process

Name Definition
behavioral response to pain Any process that results in a change in the behavior of an organism as a result of a pain stimulus. Pain stimuli cause activation of nociceptors, peripheral receptors for pain, include receptors which are sensitive to painful mechanical stimuli, extreme heat or cold, and chemical stimuli.
detection of hypoxic conditions in blood by carotid body chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies.
neuromuscular junction development A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction.
neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse.
peristalsis A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards.
positive regulation of calcium ion transport into cytosol Any process that increases the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components.
positive regulation of calcium-mediated signaling Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling.
response to ATP Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ATP (adenosine 5'-triphosphate) stimulus.
response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus.
response to hypoxia Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to ischemia Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a inadequate blood supply.
sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.
sensory perception of taste The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process.
skeletal muscle fiber development The process whose specific outcome is the progression of the skeletal muscle fiber over time, from its formation to the mature structure. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast.
urinary bladder smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAAAQPKYPA GATARRLARG CWSALWDYET PKVIVVRNRR LGVLYRAVQL LILLYFVWYV
70 80 90 100 110 120
FIVQKSYQES ETGPESSIIT KVKGITTSEH KVWDVEEYVK PPEGGSVFSI ITRVEATHSQ
130 140 150 160 170 180
TQGTCPESIR VHNATCLSDA DCVAGELDML GNGLRTGRCV PYYQGPSKTC EVFGWCPVED
190 200 210 220 230 240
GASVSQFLGT MAPNFTILIK NSIHYPKFHF SKGNIADRTD GYLKRCTFHE ASDLYCPIFK
250 260 270 280 290 300
LGFIVEKAGE SFTELAHKGG VIGVIINWDC DLDLPASECN PKYSFRRLDP KHVPASSGYN
310 320 330 340 350 360
FRFAKYYKIN GTTTRTLIKA YGIRIDVIVH GQAGKFSLIP TIINLATALT SVGVGSFLCD
370 380 390 400 410 420
WILLTFMNKN KVYSHKKFDK VCTPSHPSGS WPVTLARVLG QAPPEPGHRS EDQHPSPPSG
430 440 450 460 470
QEGQQGAECG PAFPPLRPCP ISAPSEQMVD TPASEPAQAS TPTDPKGLAQ L