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

7 structures for Q96EK5

Entry ID Method Resolution Chain Position Source
6ZPG EM 460 A A 1-621 PDB
6ZPH EM 690 A A 1-621 PDB
7RSI EM 490 A B 1-621 PDB
7RSQ EM 380 A B 1-621 PDB
7RYP EM 480 A B 1-621 PDB
7RYQ EM 460 A B 1-621 PDB
AF-Q96EK5-F1 Predicted AlphaFoldDB

448 variants for Q96EK5

Variant ID(s) Position Change Description Diseaes Association Provenance
CA172377
RCV000888750
rs148768851
RCV000984789
RCV000146134
23 E>G Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5529616
rs372223602
RCV002240734
RCV001105545
39 A>G Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs757781374
CA5529620
RCV001105546
41 A>P Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs767103634
RCV000449580
56 D>missing Peripheral neuropathy [ClinVar] Yes ClinVar
dbSNP
RCV001251036
rs770201721
57 E>* Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000712142
CA172373
RCV000600043
RCV000146132
VAR_023311
rs2255607
66 G>S Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201068859
RCV002558055
RCV001105547
CA5529637
68 G>R Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001794429
CA251942
rs121434515
84 E>* Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs121434514
RCV001794428
CA251940
90 R>* Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001105548
CA376899159
rs1339934594
101 L>F Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs768592975
CA5529651
RCV001105550
108 T>A Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs62625033
RCV000146133
RCV000710152
RCV001106691
CA172375
173 M>T Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA376896175
RCV000984791
rs1589296239
189 P>S Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs730882150
RCV000325234
RCV001795283
CA273767
200 S>* Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001795284
rs730882151
202 R>missing Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001106692
rs547582634
CA5529750
240 E>K Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001106693
rs749110699
RCV000503869
CA5529758
261 I>V Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA213244
RCV000146136
rs76319365
309 E>K Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA376898230
rs1293340864
RCV000500069
326 Q>* Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs769950460
RCV000334908
RCV002281081
362 A>missing Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000984790
RCV002235142
rs370902866
CA5529879
427 S>G Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002240736
RCV001108857
CA5529886
rs764557349
442 R>T Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1457900956
RCV001108859
458 T>I Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000984793
rs781469363
RCV000599038
506 I>missing Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
RCV002558090
CA5529926
RCV001108861
rs561448573
539 V>I Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA209208270
RCV000732820
rs906050638
RCV002250687
549 R>* Goldberg-Shprintzen megacolon syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV001108862
rs1839004363
556 K>Q Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
rs1216570912
RCV000984792
565 E>missing Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinVar
dbSNP
RCV001103701
CA5529943
rs374731910
590 A>T Goldberg-Shprintzen megacolon syndrome [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA209191387
rs756816553
5 P>L No ClinGen
ExAC
gnomAD
CA5529603
rs756816553
5 P>Q No ClinGen
ExAC
gnomAD
CA209191388
rs545527324
6 W>* No ClinGen
TOPMed
CA376898256
rs1358858905
6 W>G No ClinGen
TOPMed
gnomAD
CA209191389
rs1024180629
7 A>G No ClinGen
Ensembl
rs1843307363
RCV001289079
7 A>S No ClinVar
dbSNP
TCGA novel 7 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1265597786
CA376898296
8 E>A No ClinGen
gnomAD
rs553587755
CA5529604
RCV000501767
10 C>F No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 11 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747405986
CA5529607
13 F>L No ClinGen
ExAC
gnomAD
CA376898389
rs777015827
15 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs777015827
CA5529609
15 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA376898396
rs1481458834
16 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1589292346
CA376898401
17 L>V No ClinGen
Ensembl
CA376898409
rs1181708378
18 A>S No ClinGen
TOPMed
CA5529611
rs770113692
20 S>P No ClinGen
ExAC
gnomAD
CA209191390
rs1014852252
20 S>W No ClinGen
Ensembl
rs1429970950
CA376898439
21 R>P No ClinGen
gnomAD
rs1471707597
CA376898436
21 R>W No ClinGen
TOPMed
rs775247494
CA376898472
25 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA5529614
rs775247494
25 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1324154278
CA376898580
33 Y>H No ClinGen
gnomAD
rs763921922
CA5529615
36 K>T No ClinGen
ExAC
gnomAD
CA376898648
rs1285747347
39 A>T No ClinGen
gnomAD
rs372223602
CA5529617
39 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749960762
CA5529619
40 R>W No ClinGen
ExAC
gnomAD
rs1283885170
CA376898679
43 L>V No ClinGen
gnomAD
rs1226222903
CA376898735
48 A>G No ClinGen
TOPMed
rs747425094
CA5529622
48 A>P No ClinGen
ExAC
CA209191393
rs897870475
50 L>R No ClinGen
TOPMed
CA376898756
rs1041795333
51 G>R No ClinGen
TOPMed
CA209191395
rs1041795333
51 G>S No ClinGen
TOPMed
CA5529623
rs755489046
52 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA376898763
rs1480034789
52 P>S No ClinGen
gnomAD
CA376898772
rs1406956910
54 P>T No ClinGen
TOPMed
rs1426169338
CA376898786
56 D>N No ClinGen
gnomAD
CA5529627
rs770201721
57 E>K No ClinGen
ExAC
gnomAD
rs773512678
RCV000500164
CA5529628
59 E>K No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs749414163
CA5529629
60 R>W No ClinGen
ExAC
gnomAD
CA5529630
rs371300766
61 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA5529631
rs774462618
63 A>G No ClinGen
ExAC
gnomAD
COSM1348764
CA376898837
rs774462618
63 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA209191397
rs935579771
64 E>K No ClinGen
TOPMed
CA5529633
rs2255607
66 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5529634
rs2255607
66 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750004526
CA5529636
67 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs764872990
CA5529635
67 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs201068859
CA5529638
68 G>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1206217818
CA376898861
68 G>D No ClinGen
TOPMed
rs201068859
CA376898860
68 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA376898864
rs1292526099
69 A>T No ClinGen
gnomAD
CA376898868
rs1490219246
69 A>V No ClinGen
gnomAD
rs1393955776
CA376898873
70 G>D No ClinGen
gnomAD
rs1252658012
CA376898879
71 D>G No ClinGen
gnomAD
rs1012864536
CA209191398
72 H>N No ClinGen
Ensembl
rs755612919
CA376898929
77 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs755612919
CA5529641
77 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755612919
CA376898927
77 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1180741256
CA376898925
77 P>S No ClinGen
gnomAD
rs1163865456
CA376898932
78 A>T No ClinGen
gnomAD
rs1247242658
CA376898941
79 E>K No ClinGen
gnomAD
rs192748736
CA209191400
84 E>D No ClinGen
1000Genomes
CA376898990
rs121434515
84 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778077029
CA5529646
85 G>R No ClinGen
ExAC
gnomAD
CA376899003
rs778077029
85 G>W No ClinGen
ExAC
gnomAD
rs749517204
CA5529647
86 P>S No ClinGen
ExAC
gnomAD
CA376899022
rs1328531861
87 V>F No ClinGen
gnomAD
CA209191401
rs1014883362
88 A>T No ClinGen
TOPMed
rs1387463152
CA376899038
89 Q>K No ClinGen
TOPMed
CA376899041
rs1334373963
89 Q>R No ClinGen
gnomAD
CA376899050
rs992870301
90 R>L No ClinGen
TOPMed
gnomAD
CA209191402
rs992870301
90 R>Q No ClinGen
TOPMed
gnomAD
CA376899082
rs1316056840
94 L>V No ClinGen
TOPMed
gnomAD
CA376899110
rs1358806567
97 I>V No ClinGen
gnomAD
rs1383187078
CA376899117
98 E>K No ClinGen
TOPMed
CA5529649
rs774361181
99 F>V No ClinGen
ExAC
gnomAD
rs1219404864
COSM1255676
CA376899208
105 H>R oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs912912274
CA209191403
106 I>T No ClinGen
TOPMed
gnomAD
CA376899228
rs745948039
107 D>N No ClinGen
ExAC
gnomAD
CA5529650
rs745948039
107 D>Y No ClinGen
ExAC
gnomAD
rs761628784
CA5529654
109 E>D No ClinGen
ExAC
gnomAD
rs1462900645
CA376899275
111 L>R No ClinGen
gnomAD
rs1167874163
CA376899283
112 S>L No ClinGen
gnomAD
CA376899292
rs1262056242
114 G>R No ClinGen
TOPMed
CA5529655
rs769531440
116 E>G No ClinGen
ExAC
gnomAD
rs773038576
CA5529656
117 H>P No ClinGen
ExAC
gnomAD
CA209191407
rs1030239043
117 H>Q No ClinGen
gnomAD
rs773038576
CA376899342
117 H>R No ClinGen
ExAC
gnomAD
CA376899338
rs1337631572
117 H>Y No ClinGen
gnomAD
rs1589292460
CA376899357
119 V>G No ClinGen
Ensembl
CA376899376
rs1394527585
120 K>N No ClinGen
gnomAD
CA5529657
rs372695759
123 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA209191409
rs986393623
124 L>R No ClinGen
TOPMed
CA376893180
rs1308188448
126 R>L No ClinGen
TOPMed
gnomAD
CA376893186
rs751092379
127 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA5529660
rs759061022
127 R>K No ClinGen
ExAC
gnomAD
rs768145533
CA5529661
128 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1589292473
CA376893207
128 Y>D No ClinGen
Ensembl
CA5529662
rs753204138
129 R>G No ClinGen
ExAC
gnomAD
rs1459656007
CA376893226
129 R>L No ClinGen
gnomAD
CA5529665
CA376893245
rs540172119
132 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA209202130
rs200399485
134 C>G No ClinGen
1000Genomes
CA5529667
rs143950359
135 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376893263
rs1159688038
135 I>S No ClinGen
gnomAD
rs757478269
CA5529666
135 I>V No ClinGen
ExAC
rs772098884
CA5529669
136 S>T No ClinGen
ExAC
gnomAD
rs1476325494
CA376893272
137 L>V No ClinGen
TOPMed
rs1050330380
CA209202141
139 I>N No ClinGen
TOPMed
gnomAD
rs1050330380
CA376893289
139 I>T No ClinGen
TOPMed
gnomAD
rs781131113
CA5529670
139 I>V No ClinGen
ExAC
gnomAD
CA5529671
rs529028747
140 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs865809614
CA209202148
141 A>G No ClinGen
gnomAD
CA209202145
rs375084646
141 A>T No ClinGen
Ensembl
rs865809614
CA376893313
141 A>V No ClinGen
gnomAD
TCGA novel 142 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA376893325
rs1290898365
142 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5529692
rs769682005
143 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA5529694
rs749043896
154 E>D No ClinGen
ExAC
gnomAD
CA209204688
rs770722517
155 I>L No ClinGen
ExAC
gnomAD
CA5529695
rs770722517
155 I>V No ClinGen
ExAC
gnomAD
CA376895243
rs1387131459
160 A>T No ClinGen
gnomAD
rs1589295169
CA376895300
162 L>V No ClinGen
Ensembl
rs774262677
CA5529696
163 E>Q No ClinGen
ExAC
gnomAD
rs1302467817
CA376895352
165 S>* No ClinGen
gnomAD
rs1347981384
CA376895382
167 A>V No ClinGen
gnomAD
rs1044770486
CA209204696
171 Q>H No ClinGen
TOPMed
rs200596309
CA376895455
173 M>L No ClinGen
TOPMed
rs200596309
CA209204698
RCV000992248
173 M>V No ClinGen
ClinVar
TOPMed
dbSNP
rs1257801340
CA376895474
174 K>E No ClinGen
TOPMed
gnomAD
rs144317643
CA5529699
175 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5529712
rs757109189
COSM427813
176 V>F Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1564636741
CA376896045
178 S>N No ClinGen
Ensembl
rs757514844 180 P>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA209205883
rs1047715298
181 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 182 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000992249
CA5529714
rs112642097
184 T>A No ClinGen
ClinVar
1000Genomes
ESP
TOPMed
dbSNP
gnomAD
CA209205885
rs112642097
184 T>P No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
RCV000192664
RCV002229020
rs200098813
CA205635
186 R>C No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs139483880
CA5529716
186 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1197071935
CA376896155
187 F>C No ClinGen
gnomAD
RCV000193127
rs771863463
CA206400
188 L>I No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1464792155
CA376896191
190 E>A No ClinGen
gnomAD
CA209205892
rs979798155
191 E>K No ClinGen
Ensembl
rs926983945
CA209205895
192 E>G No ClinGen
TOPMed
CA5529717
rs377072770
195 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5529719
rs768162436
196 E>K No ClinGen
ExAC
gnomAD
CA209205905
rs866585619
197 Q>R No ClinGen
Ensembl
rs1157358651
CA376896341
199 R>I No ClinGen
TOPMed
CA376896374
rs1564636963
202 R>S No ClinGen
Ensembl
rs746722910
CA209206076
206 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs746722910
CA5529736
206 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA376896407
rs1346531121
207 Y>C No ClinGen
gnomAD
rs1383529353
CA376896439
212 Y>H No ClinGen
TOPMed
rs1224561733
CA376896447
213 Y>D No ClinGen
gnomAD
CA5529737
COSM299844
rs768162943
215 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA376896466
rs1297155405
216 Q>* No ClinGen
TOPMed
rs935472274
CA209206080
216 Q>P No ClinGen
TOPMed
CA376896492
rs1487370056
218 Y>D No ClinGen
gnomAD
rs370670715
CA5529738
219 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376896547
rs1289198105
221 L>P No ClinGen
TOPMed
CA5529739
rs747600573
222 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA5529740
rs368916440
223 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5529741
rs781257334
227 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 228 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1388953594
CA376896632
228 A>T No ClinGen
TOPMed
CA376896640
rs1365348518
228 A>V No ClinGen
gnomAD
rs191873145
CA5529743
230 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1377923102
CA376896675
231 C>S No ClinGen
gnomAD
CA5529745
rs759865249
233 S>G No ClinGen
ExAC
rs752833136
COSM1348766
CA5529747
237 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5529748
rs760604068
237 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA376896719
rs760604068
237 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA209206102
rs997199629
238 Q>H No ClinGen
TOPMed
rs547582634
CA5529749
240 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5529752
rs141052402
243 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA209206113
rs1016134527
244 Y>D No ClinGen
TOPMed
CA5529754
rs140826893
245 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376896850
rs1248349112
247 I>M No ClinGen
gnomAD
CA376896852
rs1296096605
248 E>K No ClinGen
TOPMed
CA376896897
rs1355494591
251 I>V No ClinGen
gnomAD
rs937189116
CA209206119
252 N>K No ClinGen
Ensembl
CA5529755
rs780651935
252 N>S No ClinGen
ExAC
gnomAD
CA376896948
rs1252367280
254 A>V No ClinGen
gnomAD
CA209206121
rs866036954
256 L>F No ClinGen
Ensembl
rs1177613996
CA376896971
256 L>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA5529756
rs747701445
257 S>A No ClinGen
ExAC
gnomAD
rs1386003298
CA376896992
258 Q>* No ClinGen
TOPMed
rs572485003
CA5529757
260 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA376897023
rs572485003
260 Y>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA376897079
rs1162016885
263 K>R No ClinGen
gnomAD
rs766214681
CA5529769
264 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs149706162
CA5529771
265 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376897295
rs1465710834
267 M>I No ClinGen
TOPMed
CA5529772
rs374135003
267 M>V No ClinGen
ESP
ExAC
rs1364436073
CA376897309
269 A>G No ClinGen
gnomAD
rs752246398
CA5529773
269 A>S No ClinGen
ExAC
gnomAD
CA376897306
rs752246398
269 A>T No ClinGen
ExAC
gnomAD
rs755744684
CA5529775
271 H>N No ClinGen
ExAC
gnomAD
rs755744684
CA5529774
271 H>Y No ClinGen
ExAC
gnomAD
CA376897544
rs1376167494
286 I>V No ClinGen
TOPMed
CA5529778
rs779217930
288 A>V No ClinGen
ExAC
gnomAD
CA376897585
rs1261835762
289 T>A No ClinGen
gnomAD
rs201438642
CA5529779
292 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5529780
rs201438642
292 T>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA376897892
rs1213874017
297 G>R No ClinGen
gnomAD
TCGA novel 297 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1261742653
CA376897925
299 V>A No ClinGen
gnomAD
rs941844673
CA209207085
300 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 300 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149809657
CA5529793
301 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA376897966
rs1431618931
302 L>P No ClinGen
gnomAD
rs918976095
CA209207088
305 Q>H No ClinGen
gnomAD
rs753347618
CA5529794
307 K>R No ClinGen
ExAC
gnomAD
CA5529795
rs756713727
310 I>T No ClinGen
ExAC
gnomAD
CA5529796
rs779495747
311 A>T No ClinGen
ExAC
gnomAD
CA376898047
rs1413526451
314 W>* No ClinGen
TOPMed
gnomAD
rs1437122309
CA376898056
314 W>C No ClinGen
gnomAD
CA376898045
rs1180857940
314 W>R No ClinGen
gnomAD
CA376898048
rs1413526451
314 W>S No ClinGen
TOPMed
gnomAD
rs746409140
CA5529802
319 L>S No ClinGen
ExAC
gnomAD
CA209207093
rs978909163
320 T>P No ClinGen
TOPMed
CA376898133
rs200525249
321 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199510149
CA209207095
321 L>P No ClinGen
1000Genomes
rs200525249
CA5529803
321 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1352329978
CA376898147
322 M>I No ClinGen
gnomAD
rs141279010
CA5529805
322 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769013695
CA5529806
325 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA376898229
rs1293340864
326 Q>E No ClinGen
gnomAD
CA5529834
rs749327406
331 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374306964
CA209208242
332 N>K No ClinGen
ESP
gnomAD
rs771905210
CA5529835
332 N>S No ClinGen
ExAC
gnomAD
CA376899608
rs1411453116
333 I>K No ClinGen
gnomAD
rs1181204651
CA376899601
333 I>V No ClinGen
gnomAD
CA209208243
rs113952834
334 G>A No ClinGen
gnomAD
CA376899641
rs113952834
334 G>E No ClinGen
gnomAD
rs1430252870
CA376899628
334 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA209208244
rs774495984
335 E>G No ClinGen
Ensembl
rs775363378
CA5529836
336 L>R No ClinGen
ExAC
gnomAD
CA376899711
rs760482247
337 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA5529837
rs760482247
337 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA209208245
rs916055618
339 D>N No ClinGen
gnomAD
CA376899819
rs1288749960
342 S>P No ClinGen
TOPMed
CA376899821
rs1446733493
342 S>Y No ClinGen
gnomAD
rs776378534
CA5529838
344 L>F No ClinGen
ExAC
gnomAD
rs761439410
CA5529840
345 R>K No ClinGen
ExAC
gnomAD
CA5529841
rs764929585
349 K>E No ClinGen
ExAC
gnomAD
rs762458711
CA5529843
350 K>T No ClinGen
ExAC
gnomAD
CA376900001
rs1362774155
354 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA209208246
rs994920889
356 E>G No ClinGen
TOPMed
CA5529845
rs138090713
356 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5529848
rs371267544
359 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5529847
COSM275692
rs755522222
359 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5529850
rs756300309
360 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA376900087
rs756300309
360 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs769950460 362 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1036928323
CA209208248
363 V>E No ClinGen
Ensembl
CA209208249
rs138802223
364 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5529853
rs374297499
365 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1245098587
CA376900173
366 G>E No ClinGen
TOPMed
CA376900166
rs1346485433
366 G>R No ClinGen
TOPMed
gnomAD
CA376900213
rs1333565207
368 G>D No ClinGen
gnomAD
COSM3978739
rs200669180
CA5529855
368 G>S lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1342924055
CA376900236
369 E>K No ClinGen
TOPMed
rs200179572
CA209208251
371 C>S No ClinGen
1000Genomes
rs202157293
CA209208250
371 C>S No ClinGen
Ensembl
COSM685542
rs770724316
CA5529857
373 A>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1276557114
CA376900343
374 I>M No ClinGen
gnomAD
CA5529859
rs761611047
374 I>V No ClinGen
ExAC
gnomAD
TCGA novel 375 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA376900374
rs776459431
376 A>S No ClinGen
ExAC
gnomAD
CA5529860
rs776459431
376 A>T No ClinGen
ExAC
gnomAD
CA209208252
rs960846058
377 V>I No ClinGen
TOPMed
rs1217236521
CA376900427
379 E>G No ClinGen
TOPMed
gnomAD
rs1487268466
CA376900472
381 V>A No ClinGen
gnomAD
CA10606528
rs886044247
RCV000388627
381 V>M No ClinGen
ClinVar
dbSNP
gnomAD
CA209208253
rs371981506
384 L>F No ClinGen
ESP
TOPMed
CA5529862
rs762394220
388 D>E No ClinGen
ExAC
TOPMed
rs1247087961
CA376900693
393 R>K No ClinGen
gnomAD
COSM919852
rs766038589
CA5529863
394 E>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5529865
rs760190886
397 L>F No ClinGen
ExAC
rs768129181
CA376900741
398 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA5529867
rs753004563
399 G>C No ClinGen
ExAC
gnomAD
rs756457508
CA5529868
402 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA209208254
rs902198961
404 F>I No ClinGen
Ensembl
TCGA novel 404 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 406 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5529870
rs754137248
407 K>N No ClinGen
ExAC
gnomAD
CA376900880
rs1332083800
410 F>L No ClinGen
TOPMed
gnomAD
rs779030658
CA5529872
411 Q>* No ClinGen
ExAC
gnomAD
rs1379196173
CA376900910
412 I>T No ClinGen
TOPMed
gnomAD
rs745934722
CA5529873
412 I>V No ClinGen
ExAC
gnomAD
CA376900918
rs1269240713
413 D>Y No ClinGen
TOPMed
CA376900934
rs1338360350
414 G>A No ClinGen
TOPMed
CA5529874
rs754921517
414 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1031934038
CA209208256
415 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA209208257
rs1031934038
415 Y>F No ClinGen
Ensembl
rs999150215
CA209208255
415 Y>N No ClinGen
Ensembl
rs1285409321
CA376900948
416 V>I No ClinGen
gnomAD
CA376900971
rs1564639516
RCV000761724
418 D>N No ClinGen
ClinVar
Ensembl
dbSNP
CA376900985
rs1351350616
419 H>Y No ClinGen
gnomAD
CA5529875
rs377298939
420 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA209208258
rs960310811
422 V>A No ClinGen
Ensembl
RCV000502283
rs1450869089
CA376901035
423 V>I No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA5529877
rs769584821
424 Q>* No ClinGen
ExAC
gnomAD
rs769584821
CA376901050
424 Q>E No ClinGen
ExAC
gnomAD
rs1014919970
CA209208259
424 Q>R No ClinGen
Ensembl
rs772862957
CA5529878
425 D>G No ClinGen
ExAC
gnomAD
CA5529880
rs770706536
428 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA5529881
rs774066072
432 V>L No ClinGen
ExAC
gnomAD
CA376901852
rs373810468
433 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373810468
CA5529882
433 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1391894394
CA376901880
435 F>V No ClinGen
gnomAD
CA209208260
rs932630326
436 F>L No ClinGen
TOPMed
rs1402651253
CA376901967
440 M>V No ClinGen
gnomAD
rs377744293
CA5529888
443 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757532870
CA5529887
443 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA5529889
rs750506715
449 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA5529890
rs201404470
449 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA5529891
rs201404470
449 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs748167932
CA5529892
452 A>V No ClinGen
ExAC
gnomAD
TCGA novel 453 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA209208262
rs909933445
453 M>V No ClinGen
Ensembl
CA376902190
rs1589299061
458 T>P No ClinGen
Ensembl
rs1457900956
CA376902198
458 T>S No ClinGen
gnomAD
rs1235802814
CA376902209
459 V>A No ClinGen
gnomAD
CA5529894
rs777693937
459 V>I No ClinGen
ExAC
gnomAD
CA5529895
rs749084385
461 L>P No ClinGen
ExAC
gnomAD
CA5529898
rs774102690
465 Y>D No ClinGen
ExAC
gnomAD
rs1402950491
CA376902315
467 L>P No ClinGen
gnomAD
CA5529901
rs761310113
470 N>S No ClinGen
ExAC
gnomAD
CA376902389
rs1397928504
473 I>M No ClinGen
gnomAD
rs1334941703
CA376902390
474 Q>K No ClinGen
gnomAD
rs764494346
CA5529902
479 H>D No ClinGen
ExAC
gnomAD
rs1554843825
COSM3375518
CA376902431
479 H>R pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
CA5529903
rs375318030
483 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762099157
CA5529904
484 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA376902484
rs1219083406
486 D>G No ClinGen
TOPMed
rs933931987
CA209208263
489 V>A No ClinGen
TOPMed
CA376902504
rs1217616883
489 V>F No ClinGen
gnomAD
rs147288545
CA5529906
490 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1564639628
CA376902512
490 A>V No ClinGen
Ensembl
TCGA novel 492 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5529908
rs766522607
492 A>V No ClinGen
ExAC
gnomAD
CA376902539
rs946518833
494 R>S No ClinGen
TOPMed
gnomAD
rs139261765
CA5529909
495 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763853555
CA209208265
497 D>G No ClinGen
Ensembl
CA5529910
rs756138362
501 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA376902581
rs756138362
501 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA376902580
rs1426204282
501 H>Y No ClinGen
gnomAD
rs1371483818
CA376902591
502 I>M No ClinGen
gnomAD
CA5529912
rs753695346
503 V>L No ClinGen
ExAC
gnomAD
rs1589299115
CA376902617
506 I>T No ClinGen
Ensembl
rs1412898890
CA376902624
507 N>S No ClinGen
TOPMed
CA376902634
rs1404262531
508 N>K No ClinGen
TOPMed
TCGA novel 509 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA209208267
rs1056181592
510 N>S No ClinGen
Ensembl
CA5529915
rs757081898
512 S>* No ClinGen
ExAC
gnomAD
CA376902658
rs1401634537
512 S>P No ClinGen
gnomAD
rs1300021171
CA376902662
513 A>S No ClinGen
TOPMed
gnomAD
CA376902664
rs1300021171
513 A>T No ClinGen
TOPMed
gnomAD
rs541494160
CA5529917
524 L>R No ClinGen
1000Genomes
ExAC
gnomAD
CA376902758
rs1233563985
526 D>Y No ClinGen
TOPMed
gnomAD
CA5529919
rs779684131
528 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs779684131
CA209208268
528 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs746439491
CA5529920
530 V>L No ClinGen
ExAC
gnomAD
CA5529921
rs769220890
531 F>L No ClinGen
ExAC
gnomAD
CA376902819
rs1564639686
531 F>L No ClinGen
Ensembl
rs1241920948
CA376902831
532 P>L No ClinGen
TOPMed
rs1564639691
CA376902837
533 E>A No ClinGen
Ensembl
CA5529922
rs777074091
533 E>K No ClinGen
ExAC
gnomAD
CA5529923
rs762195530
534 H>P No ClinGen
ExAC
TCGA novel 534 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1014537937
CA209208269
535 I>T No ClinGen
Ensembl
rs773542445
CA5529925
535 I>V No ClinGen
ExAC
gnomAD
CA376902865
rs1589299144
536 G>E No ClinGen
Ensembl
CA376902889
rs1564639703
540 L>F No ClinGen
Ensembl
CA5529927
rs374074903
541 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368405054
RCV000516403
RCV002525045
CA5529928
541 R>H No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs753869868
CA5529931
543 A>T No ClinGen
ExAC
gnomAD
rs1419050253
CA376902941
548 F>L No ClinGen
gnomAD
rs1419050253
CA376902942
548 F>V No ClinGen
gnomAD
rs1307543514
CA376902957
550 V>I No ClinGen
TOPMed
rs147387308
CA5529933
552 R>C No ClinGen
ESP
ExAC
gnomAD
rs368655395
CA5529935
552 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368655395
CA5529934
552 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147387308
CA376902978
552 R>S No ClinGen
ESP
ExAC
gnomAD
rs1300238727
CA376903016
555 G>D No ClinGen
gnomAD
CA209208272
rs866474350
556 K>R No ClinGen
Ensembl
TCGA novel 557 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5529937
rs768011424
558 I>V No ClinGen
ExAC
gnomAD
CA5529938
rs372342802
562 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA376903105
rs1355001362
564 K>Q No ClinGen
TOPMed
gnomAD
rs770269897
CA376903222
573 L>* No ClinGen
ExAC
TOPMed
gnomAD
CA5529940
rs770269897
573 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA376903238
rs1160246349
574 E>Q No ClinGen
TOPMed
CA5529941
rs773630664
577 K>R No ClinGen
ExAC
gnomAD
rs972791290
CA209208273
578 F>C No ClinGen
TOPMed
TCGA novel 578 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA209208274
rs954046550
580 V>I No ClinGen
TOPMed
rs1297508616
CA376903401
583 C>S No ClinGen
Ensembl
rs1179791643
CA376903409
583 C>Y No ClinGen
TOPMed
CA376903448
rs1180539772
585 K>N No ClinGen
TOPMed
gnomAD
rs1351395042
CA376903556
590 A>V No ClinGen
gnomAD
CA376903570
rs1458281300
591 Q>R No ClinGen
gnomAD
rs201007879
CA209208276
593 I>V No ClinGen
1000Genomes
TOPMed
CA376903629
rs1391756244
594 E>Q No ClinGen
gnomAD
rs775700337
CA5529947
601 K>E No ClinGen
ExAC
gnomAD
rs1564639777
CA376903895
603 M>T No ClinGen
Ensembl
CA5529948
rs761910393
605 S>N No ClinGen
ExAC
gnomAD
rs1222693850
CA376904010
608 P>L No ClinGen
gnomAD
rs1354919783
CA376904017
609 T>A No ClinGen
TOPMed
rs552921995
CA209208277
610 K>N No ClinGen
1000Genomes
CA376904095
rs1272965370
612 E>V No ClinGen
TOPMed
gnomAD
rs758079903
CA5529951
618 M>T No ClinGen
ExAC
gnomAD
CA376904252
rs1589299224
619 A>T No ClinGen
Ensembl
CA209208278
rs985410422
620 L>R No ClinGen
TOPMed
CA209208279
rs911087411
621 T>I No ClinGen
Ensembl
CA5529952
rs766086695
621 T>S No ClinGen
ExAC
gnomAD

1 associated diseases with Q96EK5

[MIM: 609460]: Goldberg-Shprintzen syndrome (GOSHS)

A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269|PubMed:15883926, ECO:0000269|PubMed:23427148}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by intellectual disability, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease. {ECO:0000269|PubMed:15883926, ECO:0000269|PubMed:23427148}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q96EK5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96EK5

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

1 GO annotations of molecular function

Name Definition
kinesin binding Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.

5 GO annotations of biological process

Name Definition
central nervous system projection neuron axonogenesis Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body towards target cells in a different central nervous system region.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
mitochondrial transport Transport of substances into, out of or within a mitochondrion.
neuron projection maintenance The organization process that preserves a neuron projection in a stable functional or structural state. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3SYS9 KIFBP KIF-binding protein Bos taurus (Bovine) PR
Q6ZPU9 Kifbp KIF-binding protein Mus musculus (Mouse) PR
Q0IIZ5 Kifbp KIF-binding protein Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MANVPWAEVC EKFQAALALS RVELHKNPEK EPYKSKYSAR ALLEEVKALL GPAPEDEDER
70 80 90 100 110 120
PEAEDGPGAG DHALGLPAEV VEPEGPVAQR AVRLAVIEFH LGVNHIDTEE LSAGEEHLVK
130 140 150 160 170 180
CLRLLRRYRL SHDCISLCIQ AQNNLGILWS EREEIETAQA YLESSEALYN QYMKEVGSPP
190 200 210 220 230 240
LDPTERFLPE EEKLTEQERS KRFEKVYTHN LYYLAQVYQH LEMFEKAAHY CHSTLKRQLE
250 260 270 280 290 300
HNAYHPIEWA INAATLSQFY INKLCFMEAR HCLSAANVIF GQTGKISATE DTPEAEGEVP
310 320 330 340 350 360
ELYHQRKGEI ARCWIKYCLT LMQNAQLSMQ DNIGELDLDK QSELRALRKK ELDEEESIRK
370 380 390 400 410 420
KAVQFGTGEL CDAISAVEEK VSYLRPLDFE EARELFLLGQ HYVFEAKEFF QIDGYVTDHI
430 440 450 460 470 480
EVVQDHSALF KVLAFFETDM ERRCKMHKRR IAMLEPLTVD LNPQYYLLVN RQIQFEIAHA
490 500 510 520 530 540
YYDMMDLKVA IADRLRDPDS HIVKKINNLN KSALKYYQLF LDSLRDPNKV FPEHIGEDVL
550 560 570 580 590 600
RPAMLAKFRV ARLYGKIITA DPKKELENLA TSLEHYKFIV DYCEKHPEAA QEIEVELELS
610 620
KEMVSLLPTK MERFRTKMAL T