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

3 structures for Q9BTX1

Entry ID Method Resolution Chain Position Source
7R5J EM 5000 A E0/E1 1-674 PDB
7R5K EM 1200 A E0/E1 1-674 PDB
AF-Q9BTX1-F1 Predicted AlphaFoldDB

476 variants for Q9BTX1

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000844758
CA340411403
rs1570193658
369 C>Y Global developmental delay [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1166019480
CA340416186
2 A>T No ClinGen
gnomAD
CA862109
rs563958473
4 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA22663668
rs897196827
5 V>A No ClinGen
TOPMed
gnomAD
rs1263441723
CA340416169
5 V>L No ClinGen
TOPMed
gnomAD
CA340416170
rs1263441723
5 V>M No ClinGen
TOPMed
gnomAD
CA340416149
rs1323318209
8 P>H No ClinGen
TOPMed
gnomAD
rs1323318209
CA340416147
8 P>L No ClinGen
TOPMed
gnomAD
rs1222154233
CA340416150
8 P>S No ClinGen
gnomAD
CA22663662
rs572040816
10 A>P No ClinGen
1000Genomes
CA340416134
rs1341424656
10 A>V No ClinGen
gnomAD
CA340416131
rs1403180918
11 G>C No ClinGen
gnomAD
CA340416125
rs1390027820
12 R>K No ClinGen
gnomAD
rs1266882267
CA340416115
13 S>L No ClinGen
TOPMed
CA340416119
rs1294650296
13 S>P No ClinGen
gnomAD
CA22663658
rs1039544081
14 R>Q No ClinGen
TOPMed
rs1459859746
CA340416113
14 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA862105
rs767468558
15 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs7512625
CA862106
15 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1167778888
CA340416098
16 I>M No ClinGen
TOPMed
rs1430311505
CA340416103
16 I>V No ClinGen
TOPMed
rs1478352937
CA340416097
17 L>M No ClinGen
gnomAD
rs1423908413
CA340416095
17 L>P No ClinGen
TOPMed
gnomAD
rs1423908413
CA340416094
17 L>R No ClinGen
TOPMed
gnomAD
rs749799534
CA862090
20 V>I No ClinGen
ExAC
gnomAD
CA862089
rs780038604
21 L>W No ClinGen
ExAC
gnomAD
rs202217135
CA862087
CA862086
23 W>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340415960
rs1570245187
24 R>K No ClinGen
Ensembl
TCGA novel 24 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA22662257
rs993879153
25 I>T No ClinGen
TOPMed
gnomAD
CA340415948
rs1344291075
26 V>A No ClinGen
TOPMed
TCGA novel 26 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA22662253
rs199526095
26 V>I No ClinGen
ESP
CA340415926
rs1397776009
29 I>M No ClinGen
TOPMed
CA862083
rs576421559
36 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA862082
rs147722125
38 I>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA862080
rs765031899
40 T>A No ClinGen
ExAC
gnomAD
CA340415852
rs1283001749
41 T>R No ClinGen
TOPMed
rs759121257
RCV000970695
CA862079
43 F>L No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA340415837
rs776056249
44 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs766036185
CA862077
44 I>T No ClinGen
ExAC
gnomAD
CA862078
rs776056249
44 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs760310220
CA862076
47 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA862075
rs774766049
49 I>M No ClinGen
ExAC
gnomAD
CA340415799
rs1158004039
49 I>T No ClinGen
gnomAD
CA22662219
rs1050289145
51 L>F No ClinGen
TOPMed
CA22662215
rs768979369
53 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs1185232454
CA340415771
53 H>Q No ClinGen
gnomAD
CA862074
rs768979369
53 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA862073
rs749809313
54 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA340415767
rs1441567574
54 P>S No ClinGen
gnomAD
CA862071
rs41313377
55 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA862072
rs776087410
55 I>V No ClinGen
ExAC
gnomAD
CA862070
rs745972331
56 Q>R No ClinGen
ExAC
gnomAD
CA340415752
rs1557593323
57 W>R No ClinGen
Ensembl
rs554272928
CA862069
59 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1242220501
CA340415693
60 D>V No ClinGen
gnomAD
CA862054
rs548894964
62 F>C No ClinGen
1000Genomes
ExAC
gnomAD
CA862055
rs763380008
62 F>L No ClinGen
ExAC
gnomAD
CA862052
rs746354094
66 Y>C No ClinGen
ExAC
gnomAD
CA340415634
rs1557592091
66 Y>D No ClinGen
Ensembl
CA340415623
rs1198766677
67 S>G No ClinGen
TOPMed
rs767668725
CA22660708
69 Y>C No ClinGen
TOPMed
CA340415539
rs1479435707
71 I>M No ClinGen
TOPMed
rs771109347
CA862050
72 F>L No ClinGen
ExAC
gnomAD
CA862051
rs776889041
72 F>S No ClinGen
ExAC
gnomAD
CA862048
rs778167892
75 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA862046
rs747992238
80 V>I No ClinGen
ExAC
gnomAD
rs1164844207
CA340415330
84 I>R No ClinGen
gnomAD
rs778562994
CA862044
88 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1004112842
CA22660678
90 E>G No ClinGen
TOPMed
CA862043
rs755012639
91 F>I No ClinGen
ExAC
gnomAD
rs199637950
CA862042
92 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA862041
rs116279146
93 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749035140
CA862023
94 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs779998354
CA862022
96 P>L No ClinGen
ExAC
gnomAD
CA340413905
rs1248979652
99 P>R No ClinGen
gnomAD
rs780561702
CA862019
102 R>T No ClinGen
ExAC
gnomAD
CA340413883
rs1200890540
103 L>I No ClinGen
gnomAD
rs1414676750
CA340413881
103 L>Q No ClinGen
gnomAD
CA862017
rs61751026
106 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA862015
rs760006725
106 I>M No ClinGen
ExAC
gnomAD
CA862016
rs61751026
106 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 108 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340413847
rs1345032456
109 I>N No ClinGen
TOPMed
gnomAD
rs1345032456
CA340413846
109 I>T No ClinGen
TOPMed
gnomAD
rs754183651
CA862014
109 I>V No ClinGen
ExAC
CA22658418
rs369521412
110 I>V No ClinGen
ESP
TOPMed
CA862013
rs767010598
116 M>L No ClinGen
ExAC
gnomAD
CA340413798
rs1416002368
116 M>T No ClinGen
TOPMed
CA862012
rs375742323
117 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368557375
CA862010
117 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375742323
CA862011
117 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762145922
CA862009
118 S>L No ClinGen
ExAC
gnomAD
TCGA novel 121 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA22658413
rs868505816
121 H>Q No ClinGen
Ensembl
rs779810302
CA862005
124 M>R No ClinGen
ExAC
gnomAD
rs757239698
CA862006
124 M>V No ClinGen
ExAC
gnomAD
rs1381462827
CA340413735
126 M>V No ClinGen
gnomAD
CA862004
rs769789336
127 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs780801495
CA862002
128 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA862003
rs745759834
128 M>L No ClinGen
ExAC
gnomAD
CA862001
rs756737481
131 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA340413693
rs1442523214
132 A>T No ClinGen
TOPMed
gnomAD
rs751036886
CA340413686
133 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs751036886
CA862000
133 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs751036886
CA340413687
133 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA340413673
rs1237296234
135 I>T No ClinGen
gnomAD
rs1013025245
CA22658395
135 I>V No ClinGen
TOPMed
gnomAD
CA340413664
rs1352972249
137 Q>K No ClinGen
gnomAD
CA340413659
rs1235544858
137 Q>L No ClinGen
gnomAD
rs1054687190
CA22658391
138 G>D No ClinGen
Ensembl
CA861999
rs777291505
140 Y>H No ClinGen
ExAC
gnomAD
CA861998
rs141204999
141 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200547658
CA861997
144 V>L No ClinGen
ExAC
gnomAD
rs1040275375
CA22658377
146 P>R No ClinGen
TOPMed
TCGA novel 147 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449082990
CA340413582
149 G>D No ClinGen
gnomAD
CA861995
rs375468870
150 T>P No ClinGen
ESP
ExAC
gnomAD
CA861975
VAR_026388
rs17849721
154 G>D No ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA861974
rs767915338
155 S>R No ClinGen
ExAC
gnomAD
CA340413524
rs1187741257
156 P>A No ClinGen
TOPMed
gnomAD
rs1221579877
CA340413518
157 A>S No ClinGen
TOPMed
rs757726463
CA861973
158 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs144318786
CA861972
158 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA861970
rs763209170
161 C>S No ClinGen
ExAC
gnomAD
rs1297874207
CA340413454
166 H>L No ClinGen
gnomAD
CA861967
rs759251141
166 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA340413443
rs1385138531
168 F>L No ClinGen
gnomAD
TCGA novel 169 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776425575
CA861966
170 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA861965
rs770828109
172 T>A No ClinGen
ExAC
gnomAD
TCGA novel 173 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340413406
rs1398508311
174 A>G No ClinGen
gnomAD
CA861964
rs151303092
174 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1170374017
CA340413389
176 M>I No ClinGen
gnomAD
CA861963
rs772892329
180 Y>C No ClinGen
ExAC
gnomAD
CA861962
rs771689510
181 S>N No ClinGen
ExAC
rs1430888690
CA340413347
182 L>F No ClinGen
TOPMed
gnomAD
rs1430888690
CA340413345
182 L>V No ClinGen
TOPMed
gnomAD
CA340413326
rs1469673213
183 L>P No ClinGen
TOPMed
gnomAD
CA340413313
rs1456306650
184 Y>C No ClinGen
TOPMed
rs148809606
CA861957
187 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757744383
CA861956
188 N>S No ClinGen
ExAC
gnomAD
rs1041306386
CA22657535
190 N>D No ClinGen
gnomAD
rs943647334
CA22657523
190 N>S No ClinGen
TOPMed
gnomAD
CA861955
rs374201897
191 Y>C No ClinGen
ESP
ExAC
gnomAD
rs1331167903
CA340413134
195 P>R No ClinGen
gnomAD
rs778202878
CA861953
196 I>M No ClinGen
ExAC
gnomAD
rs944011011
CA22657515
196 I>V No ClinGen
Ensembl
rs780758332
CA22657510
197 I>V No ClinGen
Ensembl
rs1275923184
CA340413089
198 Q>H No ClinGen
TOPMed
CA861933
rs778254143
199 Q>R No ClinGen
ExAC
gnomAD
CA340411940
rs1190160741
200 Y>C No ClinGen
TOPMed
gnomAD
CA340411925
rs1170529483
201 K>R No ClinGen
TOPMed
TCGA novel 202 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA22655236
rs1009687150
202 F>L No ClinGen
TOPMed
rs758842714
CA861932
204 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA861931
rs202236360
204 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340411825
rs1390272312
208 S>T No ClinGen
TOPMed
rs1244494651
CA340411737
213 V>G No ClinGen
gnomAD
rs754073884
CA861928
215 H>Y No ClinGen
ExAC
gnomAD
CA340411699
rs1293453273
216 S>N No ClinGen
gnomAD
CA22655211
rs769467721
217 C>F No ClinGen
Ensembl
rs936700121
CA22655196
217 C>W No ClinGen
TOPMed
rs769467721
CA22655214
217 C>Y No ClinGen
Ensembl
CA861927
rs766466188
224 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1265727798
CA340411591
225 R>G No ClinGen
TOPMed
CA340411562
rs1469953989
227 F>L No ClinGen
TOPMed
gnomAD
rs1207653786
CA340411543
229 I>T No ClinGen
TOPMed
CA22655172
rs986786255
230 L>S No ClinGen
Ensembl
CA22655163
rs905097399
232 Y>F No ClinGen
TOPMed
gnomAD
rs1423163444
CA340410099
235 G>A No ClinGen
TOPMed
gnomAD
rs1423163444
CA340410103
235 G>D No ClinGen
TOPMed
gnomAD
CA340410078
rs1168630407
236 Y>C No ClinGen
gnomAD
CA340410061
rs1255612978
237 I>S No ClinGen
TOPMed
CA340410067
rs1476393537
237 I>V No ClinGen
gnomAD
CA861903
rs751537502
240 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs767576699
CA861902
241 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs762527996
CA861901
244 T>I No ClinGen
ExAC
gnomAD
rs773603921
CA861897
246 M>I No ClinGen
ExAC
gnomAD
CA340409910
rs759180095
246 M>R No ClinGen
ExAC
gnomAD
rs759180095
CA861898
246 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA861899
rs140272518
246 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 248 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340409819
rs1570208830
250 I>T No ClinGen
Ensembl
CA340409801
rs1557581652
251 D>A No ClinGen
Ensembl
CA340409582
rs1305444328
252 E>D No ClinGen
gnomAD
rs765980814
CA22650350
254 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs765980814
CA340409559
254 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs565513140
CA861879
254 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs765980814
CA861878
254 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1280389837
CA340409548
255 H>R No ClinGen
gnomAD
CA861877
rs762246216
257 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA861875
rs769264092
258 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1435347733
CA340409473
261 V>A No ClinGen
gnomAD
CA861874
rs201129316
262 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340409462
rs1361343346
262 S>N No ClinGen
TOPMed
CA861873
rs139068522
263 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139068522
CA340409444
263 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781569025
COSM233605
CA861870
268 S>L Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781569025
CA340409382
268 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA861868
rs372200205
270 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA861865
rs745847402
272 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA861866
rs144862626
272 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs897947981
CA22650331
276 C>W No ClinGen
Ensembl
CA861864
rs778777100
277 G>D No ClinGen
ExAC
gnomAD
CA861862
rs766036287
281 L>M No ClinGen
ExAC
gnomAD
CA861861
rs766036287
281 L>V No ClinGen
ExAC
gnomAD
rs138233326
CA861860
COSM910802
282 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA861858
rs764336913
285 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 285 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340409159
rs1357405170
286 V>A No ClinGen
gnomAD
CA861857
rs763565846
288 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs776170347
CA861856
289 I>L No ClinGen
ExAC
gnomAD
rs759701745
CA861854
291 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs148955439
CA861852
294 Y>C No ClinGen
ESP
ExAC
gnomAD
CA340409095
rs1475265517
296 T>S No ClinGen
TOPMed
gnomAD
CA340407889
rs1256328275
298 A>V No ClinGen
gnomAD
CA861831
rs773341233
299 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs747955631
CA861829
303 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA861828
rs774122813
305 P>L No ClinGen
ExAC
gnomAD
CA340407724
rs1431616960
306 P>S No ClinGen
gnomAD
CA22649685
rs1014355811
308 A>V No ClinGen
TOPMed
CA861826
rs376309632
309 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA22649684
rs201022129
310 G>R No ClinGen
TOPMed
gnomAD
rs1302091161
CA340407600
312 D>A No ClinGen
TOPMed
CA861824
rs145758782
314 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340407380
rs1393095342
321 S>G No ClinGen
TOPMed
rs756920484
CA861821
321 S>R No ClinGen
ExAC
gnomAD
rs931087415
CA22649651
322 N>S No ClinGen
TOPMed
gnomAD
rs753179579
CA861820
323 P>L No ClinGen
ExAC
gnomAD
rs562850670
CA861819
324 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1248707258
CA340407284
325 P>A No ClinGen
gnomAD
rs151124002
CA861817
325 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151124002
CA340407268
325 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151124002
CA861818
325 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 326 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1208802673
CA340407248
326 I>T No ClinGen
gnomAD
rs1347878042
CA340407202
328 K>E No ClinGen
gnomAD
CA22670332
rs376969911
329 Y>H No ClinGen
ESP
TCGA novel 332 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 333 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340411843
rs1312926886
334 D>E No ClinGen
TOPMed
gnomAD
CA340411824
rs764262039
336 M>K No ClinGen
ExAC
gnomAD
CA861786
rs751803285
336 M>L No ClinGen
ExAC
gnomAD
rs764262039
CA861785
336 M>T No ClinGen
ExAC
gnomAD
CA340411794
rs1365775210
339 S>A No ClinGen
gnomAD
CA340411796
rs1365775210
339 S>P No ClinGen
gnomAD
CA861783
rs775341175
344 S>P No ClinGen
ExAC
gnomAD
rs1474985084
CA340411724
345 R>G No ClinGen
gnomAD
rs373565166
CA861782
345 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1190136021
CA340411696
347 Q>R No ClinGen
gnomAD
rs759485673
CA861781
348 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1232669879
CA340411675
348 E>D No ClinGen
TOPMed
rs1206100831
CA340411669
349 V>F No ClinGen
gnomAD
rs1353221909
CA340411653
350 F>L No ClinGen
gnomAD
rs776049255
CA861780
352 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA340411639
rs1269667600
352 L>I No ClinGen
gnomAD
rs770583868
CA861779
353 S>I No ClinGen
ExAC
gnomAD
CA340411613
rs770583868
353 S>N No ClinGen
ExAC
gnomAD
rs746474863
CA861778
354 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs536854518
CA861771
357 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA22668496
rs576246254
358 H>Y No ClinGen
Ensembl
rs140153118
CA861769
361 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1194472334
CA340411444
363 T>A No ClinGen
gnomAD
CA340411445
rs1194472334
363 T>P No ClinGen
gnomAD
rs751580134
CA861768
364 A>G No ClinGen
ExAC
gnomAD
rs751580134
CA340411436
364 A>V No ClinGen
ExAC
gnomAD
CA340411421
rs1251578772
367 R>G No ClinGen
gnomAD
rs1014798553
CA340411414
368 E>K No ClinGen
Ensembl
rs1014798553
CA22668449
368 E>Q No ClinGen
Ensembl
CA22668429
rs200098090
370 L>F No ClinGen
Ensembl
rs752475168
CA861765
371 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA340411360
rs1211125967
373 L>S No ClinGen
gnomAD
CA340411345
rs1261080350
374 N>S No ClinGen
gnomAD
rs765055001
CA861764
375 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA340411318
rs1570193584
376 M>V No ClinGen
Ensembl
CA22668407
rs1014146065
377 T>I No ClinGen
gnomAD
TCGA novel 378 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1177983836
CA340411288
378 Q>R No ClinGen
TOPMed
rs1367250174
CA340411268
381 I>V No ClinGen
gnomAD
CA340411261
rs1301061379
382 L>V No ClinGen
gnomAD
CA340411252
rs771920754
383 Y>C No ClinGen
ExAC
gnomAD
rs771920754
CA861758
383 Y>F No ClinGen
ExAC
gnomAD
rs1395506197
CA340411255
383 Y>H No ClinGen
gnomAD
CA340411228
rs1408304848
386 A>V No ClinGen
gnomAD
CA861756
rs780332596
389 T>A No ClinGen
ExAC
gnomAD
CA861755
rs770217612
389 T>M No ClinGen
ExAC
gnomAD
rs905804282
CA22668382
391 G>R No ClinGen
TOPMed
rs757745763
CA861752
393 V>L No ClinGen
ExAC
gnomAD
CA340411144
rs1280314379
396 S>F No ClinGen
TOPMed
rs372774650
CA861747
399 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752982451
CA861748
399 V>L No ClinGen
ExAC
gnomAD
rs1227494012
CA340411106
400 E>K No ClinGen
Ensembl
rs144487640
CA861746
400 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA340411081
rs1281168485
402 K>E No ClinGen
TOPMed
CA861745
rs753517346
406 S>Y No ClinGen
ExAC
gnomAD
CA340411015
rs1344230523
407 P>L No ClinGen
gnomAD
rs1338621325
CA340410229
408 E>V No ClinGen
Ensembl
rs755144525
CA861727
410 T>A No ClinGen
ExAC
gnomAD
rs753756619
CA861726
411 A>D No ClinGen
ExAC
gnomAD
rs766250009
CA861725
412 F>V No ClinGen
ExAC
gnomAD
CA22665962
rs372529905
413 Q>H No ClinGen
ESP
TOPMed
CA340410036
rs1557575126
418 S>I No ClinGen
Ensembl
CA340410021
rs1406817899
419 Q>R No ClinGen
gnomAD
TCGA novel
rs1343346851
CA340409995
420 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
NCI-TCGA
rs767523513
CA861721
420 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA340409985
rs1473348388
421 P>R No ClinGen
gnomAD
TCGA novel 421 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773678647
CA861719
422 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761392187
CA861720
422 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA22665917
rs990904873
423 P>L No ClinGen
Ensembl
CA340409943
rs1359144172
425 V>L No ClinGen
TOPMed
rs1239065935
CA340409921
426 P>S No ClinGen
gnomAD
CA340409892
rs1213402668
427 P>L No ClinGen
TOPMed
gnomAD
rs1285257877
CA340409856
430 K>E No ClinGen
gnomAD
CA861716
rs139582452
430 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA861715
rs771307875
433 L>R No ClinGen
ExAC
gnomAD
rs1248364434
CA340409742
437 K>E No ClinGen
TOPMed
rs1557575048
CA340409714
439 S>F No ClinGen
Ensembl
rs772418834
CA861714
439 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA861712
rs772397728
440 T>A No ClinGen
ExAC
gnomAD
rs1421297602
CA340409705
441 P>S No ClinGen
TOPMed
gnomAD
rs748315192
CA861711
442 D>H No ClinGen
ExAC
gnomAD
CA340409685
rs1346197592
444 V>M No ClinGen
TOPMed
gnomAD
CA22665863
rs112803162
456 M>V No ClinGen
Ensembl
CA340409581
COSM910798
rs1423835292
458 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs750176888
CA861704
459 M>I No ClinGen
ExAC
gnomAD
rs781204599
CA861703
461 G>R No ClinGen
ExAC
gnomAD
rs757135853
CA861702
462 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs751118664
CA861701
462 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs763488794
CA861700
464 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA861699
rs531070097
465 V>L No ClinGen
1000Genomes
ExAC
gnomAD
CA861695
rs773550804
469 Y>C No ClinGen
ExAC
gnomAD
CA861694
CA861693
rs547377162
470 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs180774404
CA861692
471 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA861691
rs145662692
472 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145662692
CA340409406
472 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA340409408
rs1242479138
472 P>S No ClinGen
gnomAD
rs780432280
CA861688
477 L>P No ClinGen
ExAC
gnomAD
rs1351156920
CA340409338
478 I>V No ClinGen
gnomAD
CA340409322
rs1167677221
479 R>K No ClinGen
gnomAD
rs770087117
CA861687
480 R>K No ClinGen
ExAC
gnomAD
CA340409294
rs780817009
481 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs780817009
CA861685
481 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA861682
rs777722453
487 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA22665682
rs762296132
489 S>A No ClinGen
Ensembl
rs781422428
CA861668
490 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs770658717
CA861667
491 Q>K No ClinGen
ExAC
gnomAD
rs961205885
CA22665554
493 M>T No ClinGen
TOPMed
gnomAD
rs1209407324
CA340408822
494 T>I No ClinGen
gnomAD
rs746751505
CA861666
495 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 495 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340408782
rs1229687045
498 N>D No ClinGen
TOPMed
CA340408751
rs1235796882
500 S>P No ClinGen
gnomAD
rs1390346580
CA340408723
502 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs747722166
CA861663
503 T>P No ClinGen
ExAC
gnomAD
CA861662
rs148333247
505 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA861661
rs148333247
505 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA861660
rs753456285
507 A>V No ClinGen
ExAC
gnomAD
CA861658
rs757570881
509 G>D No ClinGen
ExAC
gnomAD
CA861659
rs766015082
509 G>R No ClinGen
ExAC
TOPMed
CA340408649
rs766015082
509 G>S No ClinGen
ExAC
TOPMed
rs1007180217
CA22665512
510 K>E No ClinGen
TOPMed
gnomAD
rs1158610970
CA340408615
511 T>I No ClinGen
TOPMed
gnomAD
rs1158610970
CA340408619
511 T>K No ClinGen
TOPMed
gnomAD
CA340408605
rs1414345990
512 M>K No ClinGen
gnomAD
CA861657
rs371740668
512 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1185885389
CA340408569
514 Q>K No ClinGen
gnomAD
CA22665494
rs865777947
516 S>G No ClinGen
Ensembl
TCGA novel 521 W>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340408353
rs1485074488
523 Q>R No ClinGen
gnomAD
CA861654
rs775759231
524 N>S No ClinGen
ExAC
gnomAD
CA861653
rs765426871
526 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs759616562
CA861652
526 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA340408241
rs1451726391
527 E>A No ClinGen
TOPMed
gnomAD
TCGA novel 528 Q>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 530 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA861633
rs766575190
531 N>H No ClinGen
ExAC
gnomAD
rs773041461
CA861631
536 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA22663286
rs868754994
536 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1402969606
CA340407002
537 V>M No ClinGen
gnomAD
rs1052798711
CA22663273
538 L>P No ClinGen
Ensembl
CA22663268
CA861629
rs747898308
540 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA861628
rs376027518
541 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA861627
rs149157348
542 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748810834
CA861626
542 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs779614470
CA861625
543 F>S No ClinGen
ExAC
gnomAD
TCGA novel 547 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 549 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215774042
CA340405595
551 I>T No ClinGen
TOPMed
gnomAD
CA861608
rs754591838
552 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA22660601
rs754591838
552 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs775239207
CA861607
553 A>G No ClinGen
ExAC
gnomAD
rs1417019857
CA340405553
553 A>T No ClinGen
TOPMed
rs775239207
CA22660590
553 A>V No ClinGen
ExAC
gnomAD
CA22660586
rs982897957
554 V>F No ClinGen
Ensembl
TCGA novel 556 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1282151676
CA340405397
558 A>T No ClinGen
gnomAD
CA861606
rs769374376
565 L>F No ClinGen
ExAC
gnomAD
rs1235332947
CA340405217
566 E>G No ClinGen
TOPMed
gnomAD
rs1442750989
CA340404741
570 H>R No ClinGen
gnomAD
rs762612478
CA861584
576 F>L No ClinGen
ExAC
gnomAD
CA340404647
rs1289140721
577 T>I No ClinGen
TOPMed
gnomAD
CA861583
rs775500548
579 D>G No ClinGen
ExAC
gnomAD
CA340404598
rs1354131056
581 F>C No ClinGen
TOPMed
gnomAD
CA340404601
rs1354131056
581 F>S No ClinGen
TOPMed
gnomAD
TCGA novel 583 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140071660
CA861582
586 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1487242245
CA340404533
587 T>S No ClinGen
gnomAD
CA861580
rs187459137
589 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340404519
rs187459137
589 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340404501
rs985735319
591 I>L No ClinGen
TOPMed
gnomAD
CA22659084
rs985735319
591 I>V No ClinGen
TOPMed
gnomAD
rs142123604
CA861579
595 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 596 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA340404421
rs1473257110
597 T>A No ClinGen
TOPMed
gnomAD
CA340404420
rs1473257110
597 T>S No ClinGen
TOPMed
gnomAD
CA340404406
rs1181251964
599 Q>K No ClinGen
TOPMed
gnomAD
rs1413313440
CA340404392
600 E>K No ClinGen
TOPMed
CA861556
rs770330848
602 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs971271043
CA22652549
603 D>A No ClinGen
Ensembl
CA340402853
COSM191630
rs1207224755
603 D>N large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs370908994
CA861554
606 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs866357765
CA22652545
609 P>S No ClinGen
Ensembl
CA22652530
rs959770902
610 H>R No ClinGen
TOPMed
rs752886954
CA22652535
610 H>Y No ClinGen
Ensembl
CA340402750
rs1191672421
611 A>D No ClinGen
TOPMed
CA340402727
rs1436908688
613 S>I No ClinGen
gnomAD
CA340402719
rs1419385982
614 K>E No ClinGen
TOPMed
CA861551
rs778111779
616 P>A No ClinGen
ExAC
gnomAD
CA340402684
rs1351569869
617 R>Q No ClinGen
TOPMed
gnomAD
rs991404778
CA22652510
617 R>W No ClinGen
TOPMed
gnomAD
rs752576015
CA861549
620 G>R No ClinGen
ExAC
gnomAD
CA861548
rs537860765
623 V>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA340402621
rs1429000953
623 V>L No ClinGen
gnomAD
rs754769846
CA861547
624 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs200700767
CA22652503
624 D>N No ClinGen
TOPMed
rs1380450785
CA340402600
625 T>N No ClinGen
TOPMed
CA340402605
rs1331832371
625 T>P No ClinGen
gnomAD
rs753857188
CA861546
627 Y>* No ClinGen
ExAC
gnomAD
rs116087466
CA861545
629 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760276805
CA861544
632 F>S No ClinGen
ExAC
gnomAD
CA861543
rs772584790
633 A>T No ClinGen
ExAC
gnomAD
CA22652484
rs1037137633
635 R>G No ClinGen
TOPMed
rs552272020
CA861542
635 R>T No ClinGen
1000Genomes
ExAC
gnomAD
CA340402529
rs1483662058
636 A>V No ClinGen
gnomAD
CA340402518
rs1320094986
638 L>R No ClinGen
TOPMed
CA340402499
rs1310088289
640 T>A No ClinGen
gnomAD
CA22652475
rs577396104
641 A>S No ClinGen
Ensembl
CA340402485
rs1219339303
641 A>V No ClinGen
gnomAD
CA340402464
rs1305624782
643 Y>C No ClinGen
gnomAD
CA861538
rs759826117
644 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs777133467
CA861537
644 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771410262
CA861536
647 T>S No ClinGen
ExAC
gnomAD
CA340402408
rs1485785099
648 T>I No ClinGen
TOPMed
TCGA novel 650 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779858388
CA22652453
650 G>D No ClinGen
Ensembl
CA340402369
rs1215071422
652 H>R No ClinGen
TOPMed
rs759948741
CA861520
657 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA340401396
rs1183892520
659 S>F No ClinGen
gnomAD
rs1462384353
COSM1320988
CA340401393
660 A>T ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs771465194
CA861518
660 A>V No ClinGen
ExAC
gnomAD
CA22650132
rs868742838
662 H>Q No ClinGen
Ensembl
CA22650133
rs1029795542
662 H>Y No ClinGen
gnomAD
rs1261947294
CA340401356
663 Q>K No ClinGen
gnomAD
CA861516
rs374774558
664 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371861925
CA861515
665 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA340401314
rs1458339351
666 L>V No ClinGen
gnomAD
TCGA novel 667 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs534511439
CA861514
668 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs534511439
CA340401287
668 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA861512
rs756360674
672 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA340401236
rs1230730504
672 F>V No ClinGen
TOPMed
TCGA novel 674 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q9BTX1

No regional properties for Q9BTX1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9BTX1

Functions

Description
EC Number
Subcellular Localization
  • Nucleus, nuclear pore complex
  • Nucleus membrane; Multi-pass membrane protein
  • Central core structure of the nuclear pore complex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nuclear pore A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined.
nuclear pore transmembrane ring A subcomplex of the nuclear pore complex (NPC) that spans the nuclear membrane and anchors the NPC to the nuclear envelope. In S. cerevisiae, the transmembrane ring is composed of Pom152p, Pom34p, and Ndc1p. In vertebrates, it is composed of Gp210, Ndc1, and Pom121. Components are arranged in 8-fold symmetrical 'spokes' around the central transport channel. A single 'spoke', can be isolated and is sometime referred to as the Ndc1 complex.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
protein-macromolecule adaptor activity The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
structural constituent of nuclear pore The action of a molecule that contributes to the structural integrity of the nuclear pore complex, a protein-lined channel in the nuclear envelope that allows the transfer of macromolecules.

8 GO annotations of biological process

Name Definition
homologous chromosome pairing at meiosis The meiotic cell cycle process where side by side pairing and physical juxtaposition of homologous chromosomes is created during meiotic prophase. Homologous chromosome pairing begins when the chromosome arms begin to pair from the clustered telomeres and ends when synaptonemal complex or linear element assembly is complete.
mRNA transport The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
nuclear pore complex assembly The aggregation, arrangement and bonding together of a set of components to form a nuclear pore complex.
nuclear pore localization Any process in which nuclear pores are transported to, or maintained in, a specific location.
nuclear pore organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nuclear pore.
nucleocytoplasmic transport The directed movement of molecules between the nucleus and the cytoplasm.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8VCB1 Ndc1 Nucleoporin NDC1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MATAVSRPCA GRSRDILWRV LGWRIVASIV WSVLFLPICT TVFIIFSRID LFHPIQWLSD
70 80 90 100 110 120
SFSDLYSSYV IFYFLLLSVV IIIISIFNVE FYAVVPSIPC SRLALIGKII HPQQLMHSFI
130 140 150 160 170 180
HAAMGMVMAW CAAVITQGQY SFLVVPCTGT NSFGSPAAQT CLNEYHLFFL LTGAFMGYSY
190 200 210 220 230 240
SLLYFVNNMN YLPFPIIQQY KFLRFRRSLL LLVKHSCVES LFLVRNFCIL YYFLGYIPKA
250 260 270 280 290 300
WISTAMNLHI DEQVHRPLDT VSGLLNLSLL YHVWLCGVFL LTTWYVSWIL FKIYATEAHV
310 320 330 340 350 360
FPVQPPFAEG SDECLPKVLN SNPPPIIKYL ALQDLMLLSQ YSPSRRQEVF SLSQPGGHPH
370 380 390 400 410 420
NWTAISRECL NLLNGMTQKL ILYQEAAATN GRVSSSYPVE PKKLNSPEET AFQTPKSSQM
430 440 450 460 470 480
PRPSVPPLVK TSLFSSKLST PDVVSPFGTP FGSSVMNRMA GIFDVNTCYG SPQSPQLIRR
490 500 510 520 530 540
GPRLWTSASD QQMTEFSNPS PSTSISAEGK TMRQPSVIYS WIQNKREQIK NFLSKRVLIM
550 560 570 580 590 600
YFFSKHPEAS IQAVFSDAQM HIWALEGLSH LVAASFTEDR FGVVQTTLPA ILNTLLTLQE
610 620 630 640 650 660
AVDKYFKLPH ASSKPPRISG SLVDTSYKTL RFAFRASLKT AIYRITTTFG EHLNAVQASA
670
EHQKRLQQFL EFKE