Descriptions

(Annotation from UniProt)
The DAD domain may regulate activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition may be released upon competitive binding of an activated GTPase. The release of DAD may allow the FH2 domain to nucleate and elongate nonbranched actin filaments.

Autoinhibitory domains (AIDs)

Target domain

27-468 (GBD/FH3 domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for O95466

Entry ID Method Resolution Chain Position Source
4YDH X-ray 380 A A/C 1-458 PDB
AF-O95466-F1 Predicted AlphaFoldDB

743 variants for O95466

Variant ID(s) Position Change Description Diseaes Association Provenance
CA399863307
rs1419994531
3 N>K No ClinGen
TOPMed
CA291046323
rs886083105
4 A>T No ClinGen
TOPMed
CA399863339
rs1239275753
6 G>C No ClinGen
gnomAD
rs1283770205
CA399863345
6 G>D No ClinGen
gnomAD
CA399863420
rs1433536186
9 E>K No ClinGen
TOPMed
CA291046324
rs1005893430
12 A>V No ClinGen
TOPMed
gnomAD
CA8612379
rs530698237
13 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399863496
rs1296596251
14 P>S No ClinGen
gnomAD
rs1382427058
CA399863505
15 A>S No ClinGen
TOPMed
gnomAD
CA399863510
rs1382427058
15 A>T No ClinGen
TOPMed
gnomAD
rs1288897757
CA399863523
16 A>S No ClinGen
TOPMed
gnomAD
rs1288897757
CA399863518
16 A>T No ClinGen
TOPMed
gnomAD
rs969828095
CA291046325
17 P>A No ClinGen
TOPMed
gnomAD
CA399863536
rs969828095
17 P>S No ClinGen
TOPMed
gnomAD
rs1001732920
CA291046326
18 P>S No ClinGen
TOPMed
CA8612380
rs751701039
19 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399863572
rs751701039
19 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA399863584
rs1339778172
20 K>R No ClinGen
TOPMed
gnomAD
CA399863602
rs1243731403
21 Q>L No ClinGen
gnomAD
rs1270049654
CA399863621
22 P>L No ClinGen
TOPMed
rs1360472972
CA399863614
22 P>T No ClinGen
TOPMed
rs1310714541
CA399863644
24 P>L No ClinGen
TOPMed
rs1359244228
CA399863661
25 P>R No ClinGen
TOPMed
rs1433669521
CA399863656
25 P>S No ClinGen
TOPMed
rs1176288708
CA399863673
26 K>R No ClinGen
TOPMed
gnomAD
CA291046328
rs149811878
28 P>L No ClinGen
1000Genomes
TOPMed
gnomAD
CA399863714
rs149811878
28 P>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA399863708
rs1474093859
28 P>S No ClinGen
gnomAD
CA399863726
rs1171177379
29 M>I No ClinGen
TOPMed
rs1401363805
CA399863743
31 A>T No ClinGen
gnomAD
rs1483014828
CA399864319
40 N>S No ClinGen
TOPMed
rs1567951845
CA399864340
42 A>V No ClinGen
Ensembl
rs771544630
CA8612390
44 N>K No ClinGen
ExAC
gnomAD
CA8612391
rs777320562
49 P>S No ClinGen
ExAC
gnomAD
rs550614169
CA8612392
50 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1410891182
CA399865873
54 Q>R No ClinGen
Ensembl
rs770080353
CA8612393
61 N>D No ClinGen
ExAC
gnomAD
rs202024994
CA8612394
61 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399865954
rs1278671931
62 E>D No ClinGen
gnomAD
rs764430700
CA8612396
62 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs774388607
CA8612397
68 I>V No ClinGen
ExAC
gnomAD
rs1264415918
CA399866054
71 Q>R No ClinGen
gnomAD
rs766398009
CA8612420
73 R>Q No ClinGen
ExAC
gnomAD
rs1222744787
CA399866145
73 R>W No ClinGen
TOPMed
CA399866210
rs1295137518
79 P>A No ClinGen
TOPMed
gnomAD
CA399866212
rs1295137518
79 P>S No ClinGen
TOPMed
gnomAD
rs759417988
CA8612422
81 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA399866243
rs1385888110
82 A>V No ClinGen
gnomAD
rs544712237
CA291047493
84 I>V No ClinGen
Ensembl
rs764945252
CA8612423
89 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA399866311
rs764945252
89 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs752425707
CA8612424
90 Y>C No ClinGen
ExAC
gnomAD
rs1567960336
CA399866350
92 D>A No ClinGen
Ensembl
rs370795739
CA8612425
93 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399866392
rs1598188762
96 V>G No ClinGen
Ensembl
CA399866397
rs1353708359
97 S>N No ClinGen
gnomAD
CA399866398
rs1353708359
97 S>T No ClinGen
gnomAD
CA399866435
rs1598188790
100 V>G No ClinGen
Ensembl
CA399866497
COSM1710384
rs1209499276
106 S>F skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8612430
rs749568309
107 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA399866662
rs1245574309
113 R>* No ClinGen
TOPMed
gnomAD
CA291047572
rs950822529
113 R>Q No ClinGen
Ensembl
CA399866680
rs1452009852
115 Q>E No ClinGen
gnomAD
rs867891866
CA291047573
115 Q>R No ClinGen
Ensembl
CA8612463
COSM2155395
rs762893518
118 T>M central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs867315062
CA291047575
119 Q>H No ClinGen
Ensembl
rs763793800
CA291047576
122 R>L No ClinGen
ExAC
gnomAD
rs763793800
CA8612464
122 R>Q No ClinGen
ExAC
gnomAD
rs1158351749
CA399866749
122 R>W No ClinGen
gnomAD
CA399866754
rs1324432585
123 E>K No ClinGen
gnomAD
rs868241353
CA291047577
124 L>M No ClinGen
TOPMed
gnomAD
CA399866771
rs1349554179
125 E>K No ClinGen
gnomAD
rs867051797
CA291047578
127 S>P No ClinGen
Ensembl
rs867650581
CA291047579
129 R>S No ClinGen
Ensembl
rs1333511551
CA399866825
130 T>I No ClinGen
gnomAD
rs1239341827
CA399866833
131 N>S No ClinGen
TOPMed
gnomAD
CA399866840
rs1170710748
132 H>Y No ClinGen
TOPMed
rs777816100
CA8612473
136 V>E No ClinGen
ExAC
gnomAD
CA399866922
rs777816100
136 V>G No ClinGen
ExAC
gnomAD
CA399866961
rs1316728318
139 F>L No ClinGen
TOPMed
gnomAD
CA291047609
rs866288268
140 L>F No ClinGen
Ensembl
CA8612475
rs373663989
141 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867268487
CA291047610
142 E>K No ClinGen
Ensembl
CA291047611
rs113346719
144 N>D No ClinGen
Ensembl
rs1257260283
CA399867007
144 N>S No ClinGen
gnomAD
CA8612478
rs367724765
145 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8612479
rs148973232
145 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749054379
CA8612481
148 D>H No ClinGen
ExAC
gnomAD
CA8612480
rs749054379
148 D>Y No ClinGen
ExAC
gnomAD
CA399867048
rs1461518344
149 V>M No ClinGen
gnomAD
rs375380299
CA8612483
152 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8612484
rs771688761
155 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1333216956
CA399867113
155 A>V No ClinGen
gnomAD
CA8612485
rs772678322
162 T>M No ClinGen
ExAC
gnomAD
CA8612506
rs775915127
165 M>I No ClinGen
ExAC
gnomAD
CA8612505
rs770429242
165 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA399867233
rs770429242
165 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA291047641
rs200640751
166 E>G No ClinGen
gnomAD
CA399867251
rs1439516512
167 S>I No ClinGen
gnomAD
rs372127527
CA8612507
168 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1242990462
CA399867269
169 D>G No ClinGen
gnomAD
rs375374786
CA291047642
169 D>N No ClinGen
ESP
TOPMed
gnomAD
CA399867287
rs7209538
170 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8612510
rs369927345
171 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399867376
rs1228289595
178 N>I No ClinGen
gnomAD
CA399867394
rs1267456009
180 P>A No ClinGen
gnomAD
rs1031970859
CA291047643
180 P>L No ClinGen
Ensembl
rs1213081352
CA399867465
186 E>D No ClinGen
gnomAD
rs767742597
CA399867472
187 D>A No ClinGen
ExAC
gnomAD
rs767742597
CA8612512
187 D>V No ClinGen
ExAC
gnomAD
CA399867478
rs1179201681
188 L>I No ClinGen
gnomAD
CA399867516
rs780269020
191 G>D No ClinGen
ExAC
gnomAD
CA8612515
rs780269020
191 G>V No ClinGen
ExAC
gnomAD
CA291047645
rs974533292
192 P>S No ClinGen
gnomAD
rs754038484
CA399867531
193 P>A No ClinGen
ExAC
CA8612516
rs754038484
193 P>S No ClinGen
ExAC
CA399867554
rs1368670891
195 S>F No ClinGen
gnomAD
CA8612518
COSM1734486
rs778765351
196 V>M pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1446949290
CA399867567
197 P>S No ClinGen
gnomAD
CA8612521
rs771793020
198 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1390021801
CA399867595
199 S>R No ClinGen
gnomAD
rs777337969
CA8612522
200 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs373132848
CA8612523
200 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373132848
CA8612524
200 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769161697
CA8612527
205 K>E No ClinGen
ExAC
gnomAD
rs374960639
CA8612568
208 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778447690
CA8612567
208 P>S No ClinGen
ExAC
gnomAD
CA8612569
rs771426176
210 H>Y No ClinGen
ExAC
gnomAD
CA8612570
rs776852929
212 R>G No ClinGen
ExAC
gnomAD
rs759663688
CA8612571
212 R>T No ClinGen
ExAC
gnomAD
rs200547847
CA8612572
216 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA399868196
rs1213714217
216 R>W No ClinGen
TOPMed
gnomAD
rs763065736
CA8612574
219 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1235140964
CA399868216
219 R>H No ClinGen
gnomAD
rs763983223
CA8612575
220 I>V No ClinGen
ExAC
gnomAD
rs767205834
CA8612578
221 V>I No ClinGen
ExAC
gnomAD
CA8612579
rs144714204
222 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs535461614
CA8612580
223 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs767012221
CA8612582
225 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA8612584
rs778357711
227 V>I No ClinGen
ExAC
gnomAD
COSM1383787
rs781402859
CA8612587
229 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs769880915
CA8612589
232 M>T No ClinGen
ExAC
gnomAD
CA8612590
rs775801071
235 R>C No ClinGen
ExAC
gnomAD
CA8612591
rs762957389
235 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs774475483
CA291049055
236 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs774475483
CA8612593
236 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8612594
rs201153167
237 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767532251
CA399868422
238 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs767532251
CA8612595
238 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1207203007
CA399868461
241 Q>K No ClinGen
TOPMed
CA8612612
rs748278646
242 S>Y No ClinGen
ExAC
gnomAD
rs771856191
CA8612613
246 L>R No ClinGen
ExAC
gnomAD
CA291049267
rs1037067048
247 V>I No ClinGen
gnomAD
CA399868641
rs1393805916
248 M>T No ClinGen
TOPMed
CA291049269
rs200827907
249 N>S No ClinGen
ExAC
gnomAD
CA8612614
rs200827907
249 N>T No ClinGen
ExAC
gnomAD
rs760319880
CA8612615
250 H>P No ClinGen
ExAC
gnomAD
rs766209725
CA8612616
251 P>Q No ClinGen
ExAC
gnomAD
CA291049274
rs918577044
252 A>V No ClinGen
Ensembl
rs1555630186
CA399868706
258 A>T No ClinGen
Ensembl
CA8612617
rs531104370
263 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs879249761
CA291049277
266 P>S No ClinGen
Ensembl
rs569280215
CA8612638
270 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1394613409
CA399868836
270 A>V No ClinGen
gnomAD
rs764928976
CA8612639
271 L>V No ClinGen
ExAC
gnomAD
CA399868875
rs1393442708
277 A>V No ClinGen
gnomAD
rs868773576
CA291049332
278 A>D No ClinGen
Ensembl
rs35909374
CA291049330
278 A>P No ClinGen
Ensembl
CA399868884
rs1598198433
279 V>G No ClinGen
Ensembl
CA8612643
rs200464299
279 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1335511245
CA399868907
283 R>Q No ClinGen
gnomAD
rs138651184
CA8612645
283 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1481585863
CA399868960
291 A>S No ClinGen
TOPMed
gnomAD
CA399868969
rs1177505062
292 A>V No ClinGen
gnomAD
CA8612647
rs755368952
294 D>G No ClinGen
ExAC
gnomAD
rs1416891635
CA399868989
295 N>S No ClinGen
gnomAD
rs758604980
CA8612650
296 F>L No ClinGen
ExAC
TOPMed
rs752976420
CA8612649
296 F>L No ClinGen
ExAC
gnomAD
CA8612673
rs781205836
299 V>L No ClinGen
ExAC
gnomAD
CA8612674
rs781205836
299 V>M No ClinGen
ExAC
gnomAD
CA8612675
rs769920910
301 G>A No ClinGen
ExAC
gnomAD
rs779872309
CA8612676
302 E>V No ClinGen
ExAC
gnomAD
rs749089786
CA8612677
303 Q>* No ClinGen
ExAC
gnomAD
CA399869052
rs749089786
303 Q>E No ClinGen
ExAC
gnomAD
CA8612679
rs373612875
305 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761248488
CA8612680
305 R>H No ClinGen
ExAC
gnomAD
rs1443637227
CA399869085
307 E>D No ClinGen
Ensembl
CA291049519
rs929854823
309 L>V No ClinGen
TOPMed
gnomAD
CA399869106
rs1294767562
310 M>I No ClinGen
gnomAD
rs146945062
CA8612682
314 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8612681
rs771585864
314 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1280821092
CA399869212
319 N>K No ClinGen
gnomAD
rs760030224
CA399869216
320 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA8612683
rs760030224
320 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1243523167
CA399869244
322 F>Y No ClinGen
gnomAD
CA8612685
rs753082691
323 M>K No ClinGen
ExAC
TOPMed
gnomAD
rs750485206
CA8612709
328 Q>L No ClinGen
ExAC
gnomAD
rs1598200870
CA399869406
332 I>T No ClinGen
Ensembl
rs1188214863
CA399869471
338 E>V No ClinGen
TOPMed
CA8612711
rs766273108
339 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1370228268
CA399869531
343 R>C No ClinGen
gnomAD
rs1433955464
CA399869533
343 R>H No ClinGen
gnomAD
CA399869563
rs1281079121
346 L>V No ClinGen
gnomAD
CA399869589
rs1457994999
348 Y>C No ClinGen
TOPMed
rs755002467
CA8612713
349 E>A No ClinGen
ExAC
gnomAD
CA8612714
rs778567189
351 T>A No ClinGen
ExAC
gnomAD
rs1056201780
CA291049611
352 H>R No ClinGen
TOPMed
CA399869670
rs1265911402
356 D>N No ClinGen
gnomAD
CA8612716
rs758023511
358 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA399869798
rs1005428446
361 R>M No ClinGen
TOPMed
gnomAD
rs1410539610
CA399869802
361 R>S No ClinGen
TOPMed
CA291049922
rs1005428446
361 R>T No ClinGen
TOPMed
gnomAD
rs771223137
CA8612748
363 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8612747
rs760805391
363 R>W No ClinGen
ExAC
gnomAD
CA291049927
rs543302959
364 L>F No ClinGen
1000Genomes
TOPMed
rs1311941497
CA399869827
364 L>P No ClinGen
gnomAD
CA399869847
rs1272414859
366 E>G No ClinGen
gnomAD
COSM1521385
rs565193966
CA8612751
366 E>K lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA399869864
rs1598203681
367 S>R No ClinGen
Ensembl
CA399869922
rs1598203689
372 V>G No ClinGen
Ensembl
rs963600945
CA291049930
373 Q>H No ClinGen
TOPMed
rs752631528
CA399869968
376 A>E No ClinGen
ExAC
gnomAD
CA8612752
rs752631528
376 A>V No ClinGen
ExAC
gnomAD
CA399869981
rs1231886279
378 L>Q No ClinGen
TOPMed
rs148254640
CA291049935
383 D>N No ClinGen
ESP
rs371140378
CA399870067
386 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8612756
rs756839810
386 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8612757
rs371140378
386 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755658968
CA8612759
389 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs886583447
CA291049943
390 D>N No ClinGen
TOPMed
gnomAD
CA399870160
rs1448797548
392 E>K No ClinGen
gnomAD
rs1396636310
CA399870231
396 A>T No ClinGen
TOPMed
gnomAD
rs772773705
CA8612763
399 E>Q No ClinGen
ExAC
gnomAD
CA399870321
rs1567967496
401 M>T No ClinGen
Ensembl
rs1366650487
CA399870372
404 L>M No ClinGen
TOPMed
rs1383352870
CA399870413
406 E>K No ClinGen
gnomAD
rs1165864513
CA399870444
407 Q>H No ClinGen
TOPMed
rs146321570
CA8612767
409 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747448773
CA8612765
409 A>T No ClinGen
ExAC
gnomAD
rs146321570
CA8612766
409 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1247085318
CA399871049
414 R>W No ClinGen
TOPMed
CA291050054
rs1032578186
416 R>P No ClinGen
Ensembl
rs759150835
CA291050052
416 R>W No ClinGen
TOPMed
gnomAD
rs1397242212
CA399871088
418 A>V No ClinGen
gnomAD
CA8612792
rs767331731
420 N>K No ClinGen
ExAC
gnomAD
rs964683515
CA291050057
423 M>T No ClinGen
Ensembl
rs1390344636
CA399871136
423 M>V No ClinGen
TOPMed
rs772948351
CA8612793
426 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA399871191
rs1393567002
428 E>K No ClinGen
gnomAD
rs1308849198
CA399871211
429 L>P No ClinGen
gnomAD
CA399871215
rs1299865558
430 E>Q No ClinGen
TOPMed
CA8612794
rs118179136
434 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8612795
rs368818105
436 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368818105
CA8612796
436 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399871311
rs1259272395
439 E>K No ClinGen
TOPMed
gnomAD
rs752120142
CA8612799
439 E>V No ClinGen
ExAC
gnomAD
rs1196222115
CA399871336
441 E>K No ClinGen
gnomAD
rs1196222115
CA399871338
441 E>Q No ClinGen
gnomAD
rs1250543294
CA399871362
442 T>N No ClinGen
gnomAD
rs1417982331
CA399871386
444 R>Q No ClinGen
gnomAD
CA8612803
rs202029598
444 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754046916
CA8612825
446 R>H No ClinGen
ExAC
CA399871518
rs1207365920
449 E>K No ClinGen
gnomAD
CA399871536
rs1261996852
450 S>W No ClinGen
gnomAD
CA8612827
rs779023560
451 T>N No ClinGen
ExAC
rs1598205389
CA399871542
451 T>P No ClinGen
Ensembl
rs1161474577
CA399871552
452 A>D No ClinGen
TOPMed
rs771999782
CA8612829
452 A>S No ClinGen
ExAC
gnomAD
CA399871548
rs771999782
452 A>T No ClinGen
ExAC
gnomAD
rs777882396
CA8612830
453 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA291050121
rs796625018
455 P>A No ClinGen
Ensembl
CA8612834
rs7219366
455 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399871597
rs7219366
455 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8612835
rs7219366
455 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399871609
rs1173986938
456 S>A No ClinGen
TOPMed
gnomAD
CA8612836
rs759257998
456 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA399871607
rs1173986938
456 S>P No ClinGen
TOPMed
gnomAD
CA399871621
rs1319790085
457 R>K No ClinGen
gnomAD
CA399871637
rs769370872
458 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs769370872
CA8612837
458 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA399871645
rs1275249356
459 P>A No ClinGen
gnomAD
CA399871646
rs1275249356
459 P>S No ClinGen
gnomAD
CA399871658
rs1366409174
460 P>A No ClinGen
TOPMed
gnomAD
CA8612838
rs775042183
460 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399871673
rs1308745132
461 E>A No ClinGen
TOPMed
gnomAD
rs1308745132
CA399871676
461 E>G No ClinGen
TOPMed
gnomAD
CA399871755
rs1329228630
466 P>L No ClinGen
gnomAD
CA399871763
rs1207621487
467 P>S No ClinGen
gnomAD
CA291050139
rs556132624
468 A>T No ClinGen
gnomAD
rs1463938368
CA399871777
468 A>V No ClinGen
gnomAD
rs868043319
CA291050142
470 P>L No ClinGen
TOPMed
gnomAD
rs1224186989
CA399871796
470 P>S No ClinGen
gnomAD
CA399871820
rs1189665997
472 R>Q No ClinGen
gnomAD
rs762390081
CA8612839
472 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8612840
rs768002965
473 P>R No ClinGen
ExAC
gnomAD
CA8612841
rs750943458
475 A>T No ClinGen
ExAC
gnomAD
CA291050155
rs868390620
475 A>V No ClinGen
Ensembl
rs1462964234
CA399871885
477 E>Q No ClinGen
gnomAD
CA399871905
rs1161588648
478 L>R No ClinGen
TOPMed
CA399871915
rs1468333791
479 K>N No ClinGen
TOPMed
rs1324181602
CA399871919
480 V>L No ClinGen
gnomAD
CA399871965
rs1338070705
481 E>G No ClinGen
gnomAD
CA399871937
rs1428656093
481 E>K No ClinGen
TOPMed
rs1349057743
CA399871972
482 E>K No ClinGen
gnomAD
rs1371778754
CA399872053
485 E>D No ClinGen
TOPMed
CA399872150
rs1285948748
490 R>C No ClinGen
gnomAD
rs1327645798
CA399872154
490 R>P No ClinGen
gnomAD
rs1230509044
CA399872182
492 L>V No ClinGen
gnomAD
CA291050186
rs754245263
493 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs754245263
CA8612845
493 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA399872197
rs754245263
493 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1451391359
CA399872190
493 R>W No ClinGen
gnomAD
rs1483520503
CA399872210
494 G>A No ClinGen
TOPMed
gnomAD
rs1473840101
CA399872245
496 G>E No ClinGen
gnomAD
rs752780093
CA399872253
497 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs752780093
CA8612848
497 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1033052094
CA399872271
499 V>F No ClinGen
TOPMed
gnomAD
CA399872270
rs1033052094
499 V>I No ClinGen
TOPMed
gnomAD
CA291050201
rs1033052094
499 V>L No ClinGen
TOPMed
gnomAD
rs375284482
CA291050207
504 L>I No ClinGen
ESP
TOPMed
gnomAD
rs1356786290
CA399872364
505 P>L No ClinGen
gnomAD
rs1305853629
CA399872360
505 P>S No ClinGen
gnomAD
CA399872357
rs1305853629
505 P>T No ClinGen
gnomAD
rs1356263403
CA399872380
507 A>D No ClinGen
gnomAD
rs1226922432
CA399872395
509 A>P No ClinGen
gnomAD
rs4792898
CA8612852
511 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1277234979
CA399872415
511 P>T No ClinGen
gnomAD
CA8612853
rs781102841
512 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs745698209
CA8612854
512 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA399872432
rs1236763616
513 G>D No ClinGen
gnomAD
CA8612855
rs200190513
513 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA291050237
rs199738233
514 G>C No ClinGen
1000Genomes
ExAC
gnomAD
rs199738233
CA8612856
514 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA399872497
rs1190215997
517 P>L No ClinGen
gnomAD
CA291050240
rs974665123
518 T>N No ClinGen
Ensembl
CA399872518
rs1390541195
519 P>L No ClinGen
TOPMed
gnomAD
rs1390541195
CA399872515
519 P>Q No ClinGen
TOPMed
gnomAD
CA399872523
rs1166328867
520 G>R No ClinGen
gnomAD
rs1414473769
CA399872535
521 V>M No ClinGen
gnomAD
rs183400333
COSM3667995
CA8612860
523 T>I liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs773918631
CA8612859
523 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1300498650
CA399872568
524 G>S No ClinGen
TOPMed
gnomAD
rs776935088
CA8612862
525 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1343786178
CA399872591
526 P>R No ClinGen
TOPMed
CA8612863
rs983483815
526 P>S No ClinGen
TOPMed
gnomAD
rs983483815
CA291050256
526 P>T No ClinGen
TOPMed
gnomAD
rs1347405463
CA399872594
527 S>G No ClinGen
gnomAD
CA8612865
rs759852033
527 S>N No ClinGen
ExAC
gnomAD
rs1278033370
CA399872615
528 P>S No ClinGen
gnomAD
rs1440818740
CA399872627
529 D>N No ClinGen
gnomAD
rs1281404380
CA399872767
535 E>Q No ClinGen
TOPMed
CA291050352
rs987750486
536 P>S No ClinGen
TOPMed
gnomAD
rs1413292315
CA399872837
539 G>E No ClinGen
gnomAD
CA399872858
rs1598206745
540 A>E No ClinGen
Ensembl
CA291050356
rs911779080
541 A>V No ClinGen
TOPMed
CA399872892
rs1457199081
542 P>L No ClinGen
gnomAD
rs1393288303
CA399872904
543 P>L No ClinGen
gnomAD
CA399872934
rs1343889813
545 P>L No ClinGen
gnomAD
CA399872962
rs1230236354
547 P>Q No ClinGen
TOPMed
gnomAD
rs1230236354
CA399872964
547 P>R No ClinGen
TOPMed
gnomAD
rs776860279
CA8612878
549 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399872986
rs1226460594
550 G>C No ClinGen
TOPMed
gnomAD
CA399872991
rs1267214512
550 G>V No ClinGen
gnomAD
CA399872994
rs1488676854
551 L>F No ClinGen
gnomAD
CA399873001
rs1598206853
551 L>P No ClinGen
Ensembl
rs540975102
CA8612879
552 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs540975102
CA399873012
552 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1209036166
CA399873005
552 P>T No ClinGen
gnomAD
CA399873017
rs1483850863
553 S>A No ClinGen
TOPMed
gnomAD
CA399873020
rs1598206880
553 S>F No ClinGen
Ensembl
CA399873016
rs1483850863
553 S>P No ClinGen
TOPMed
gnomAD
rs1483477244
CA399873028
554 P>R No ClinGen
TOPMed
gnomAD
rs1485366236
CA399873025
554 P>S No ClinGen
TOPMed
CA291050369
rs866238820
555 Q>H No ClinGen
TOPMed
CA399873038
rs1222043449
555 Q>L No ClinGen
TOPMed
gnomAD
CA291050372
rs930323590
557 A>V No ClinGen
TOPMed
gnomAD
CA8612880
rs559226659
559 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1303563302
CA399873089
560 S>P No ClinGen
TOPMed
rs1157555335
CA399873096
561 A>P No ClinGen
gnomAD
CA399873102
rs1212995419
561 A>V No ClinGen
TOPMed
CA399873111
rs1192767612
562 P>H No ClinGen
TOPMed
gnomAD
rs915682673
CA291050376
569 P>S No ClinGen
TOPMed
gnomAD
rs915682673
CA399873178
569 P>T No ClinGen
TOPMed
gnomAD
rs1335993158
CA399873203
570 G>A No ClinGen
TOPMed
CA399873189
rs1403728815
570 G>S No ClinGen
TOPMed
CA8612881
rs777005438
572 P>A No ClinGen
ExAC
gnomAD
rs1360362501
CA399873273
574 P>H No ClinGen
TOPMed
CA399873295
rs1308902731
575 P>L No ClinGen
TOPMed
gnomAD
CA399873293
rs1308902731
575 P>R No ClinGen
TOPMed
gnomAD
rs1411871340
CA399873287
575 P>S No ClinGen
gnomAD
rs950236257
CA291050388
576 P>T No ClinGen
TOPMed
gnomAD
CA399873324
rs1167656804
578 P>L No ClinGen
TOPMed
gnomAD
CA291050392
rs1046330350
579 P>L No ClinGen
TOPMed
rs1243742735
CA399873355
581 P>S No ClinGen
gnomAD
rs1263480376
CA399873384
583 D>H No ClinGen
TOPMed
gnomAD
rs903398118
CA291050395
585 P>L No ClinGen
TOPMed
gnomAD
rs999082421
CA291050399
586 P>H No ClinGen
TOPMed
gnomAD
CA399873437
rs999082421
586 P>L No ClinGen
TOPMed
gnomAD
CA399873435
rs999082421
586 P>R No ClinGen
TOPMed
gnomAD
rs765502971
CA399873450
587 P>Q No ClinGen
ExAC
gnomAD
CA8612883
rs765502971
587 P>R No ClinGen
ExAC
gnomAD
CA399873478
rs1424936519
589 P>L No ClinGen
gnomAD
CA399873477
rs1424936519
589 P>R No ClinGen
gnomAD
CA399873473
rs1258794359
589 P>S No ClinGen
gnomAD
rs1187518930
CA399873484
590 P>S No ClinGen
TOPMed
gnomAD
rs574253266
CA291050407
593 P>L No ClinGen
1000Genomes
TOPMed
gnomAD
CA8612884
rs542025302
594 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1370198478
CA399873529
594 P>S No ClinGen
gnomAD
rs1379741593
CA399873543
595 P>L No ClinGen
TOPMed
gnomAD
rs1304692188
CA399873536
595 P>T No ClinGen
gnomAD
rs1395362880
CA399873552
596 G>D No ClinGen
TOPMed
gnomAD
rs1395362880
CA399873555
596 G>V No ClinGen
TOPMed
gnomAD
CA399873589
rs1567969752
599 G>E No ClinGen
Ensembl
CA8612885
rs763054769
599 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA399873586
rs763054769
599 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1228949181
CA399873603
600 P>L No ClinGen
gnomAD
CA399873613
rs1258888850
601 V>A No ClinGen
TOPMed
CA399873616
rs1258888850
601 V>G No ClinGen
TOPMed
CA399873610
rs1424854837
601 V>L No ClinGen
TOPMed
rs1019213170
CA291050423
602 P>L No ClinGen
TOPMed
gnomAD
CA291050420
rs1008691820
602 P>S No ClinGen
TOPMed
gnomAD
rs1289848416
CA399873646
603 P>L No ClinGen
gnomAD
CA399873657
rs1256048685
604 P>L No ClinGen
gnomAD
rs1241890918
CA399873667
605 P>L No ClinGen
gnomAD
CA399873663
rs1200380409
605 P>S No ClinGen
gnomAD
CA399873689
rs1389739605
607 P>S No ClinGen
TOPMed
gnomAD
CA399873705
rs1426984384
608 P>L No ClinGen
TOPMed
gnomAD
CA399873734
rs1472577744
610 P>L No ClinGen
TOPMed
rs1472577744
CA399873733
610 P>R No ClinGen
TOPMed
rs1261989429
CA399873740
611 P>S No ClinGen
Ensembl
rs1465666959
CA399873750
612 P>L No ClinGen
TOPMed
gnomAD
CA399873747
rs1266952635
612 P>S No ClinGen
TOPMed
rs1598207478
CA399873757
614 G>S No ClinGen
Ensembl
rs1435462948
CA399873767
615 P>R No ClinGen
gnomAD
CA399873776
rs1296642758
616 P>R No ClinGen
gnomAD
rs1359374317
CA399873779
617 D>N No ClinGen
gnomAD
CA399873815
rs1220561565
619 L>P No ClinGen
gnomAD
rs1311088549
CA399873847
622 R>G No ClinGen
gnomAD
rs767507016
CA399873854
622 R>H No ClinGen
ExAC
gnomAD
rs767507016
CA8612895
622 R>L No ClinGen
ExAC
gnomAD
rs1258795251
CA399873901
626 L>S No ClinGen
TOPMed
rs750316481
CA8612896
628 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs766367035
CA8612916
630 V>L No ClinGen
ExAC
gnomAD
rs376978325
CA8612917
632 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8612921
rs752331026
633 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA8612919
rs778476856
633 K>R No ClinGen
ExAC
gnomAD
CA8612924
rs770151475
639 K>Q No ClinGen
ExAC
gnomAD
CA399874205
rs1567970335
646 N>K No ClinGen
Ensembl
rs1359240457
CA399874225
648 V>M No ClinGen
gnomAD
rs1483388713
CA399874277
652 P>A No ClinGen
TOPMed
gnomAD
CA399874300
rs1231062141
654 Q>* No ClinGen
gnomAD
rs780265965
CA291050570
654 Q>H No ClinGen
Ensembl
rs369374854
CA8612927
656 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8612931
rs773120228
664 N>S No ClinGen
ExAC
gnomAD
CA399874460
rs1428468465
666 E>G No ClinGen
gnomAD
CA291050584
rs11555736
667 K>E No ClinGen
Ensembl
rs766165718
CA8612933
667 K>T No ClinGen
ExAC
gnomAD
rs1285346859
CA399874507
670 Q>K No ClinGen
TOPMed
gnomAD
rs1181551870
CA399874513
670 Q>R No ClinGen
TOPMed
CA399875551
rs1389984189
671 E>Q No ClinGen
gnomAD
rs1478029492
CA399875580
673 D>N No ClinGen
gnomAD
rs1289821901
CA399875596
674 M>L No ClinGen
TOPMed
rs775215714
CA8612954
675 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA399875672
rs1429139126
677 F>S No ClinGen
gnomAD
rs763585700
CA8612956
680 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA8612957
rs530324471
682 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs756927704
CA8612958
685 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs767106750
CA8612960
689 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs767106750
CA8612959
689 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1282755238
CA399875896
690 L>V No ClinGen
gnomAD
CA8612961
rs147957951
692 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399875952
rs779599301
693 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs76949926
CA8612963
694 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1448941080
CA399875981
695 L>R No ClinGen
gnomAD
rs1451842144
CA399876100
703 A>D No ClinGen
TOPMed
gnomAD
rs1451842144
CA399876096
703 A>G No ClinGen
TOPMed
gnomAD
rs778060319
CA8612965
704 P>S No ClinGen
ExAC
gnomAD
CA8612966
rs563838155
706 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs370784492
CA8612967
707 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399876170
rs1453413599
708 T>A No ClinGen
TOPMed
gnomAD
CA399876171
rs1453413599
708 T>S No ClinGen
TOPMed
gnomAD
rs745966484
CA8612969
710 I>T No ClinGen
ExAC
gnomAD
CA8612971
rs775410415
713 N>S No ClinGen
ExAC
gnomAD
rs762595987
CA8612972
714 R>Q No ClinGen
ExAC
gnomAD
rs1302823411
CA399876242
714 R>W No ClinGen
gnomAD
CA399876352
rs1598209649
721 T>P No ClinGen
Ensembl
rs1221835506
CA399876376
723 R>Q No ClinGen
gnomAD
rs1236549310
CA399876373
723 R>W No ClinGen
TOPMed
gnomAD
CA399876414
rs1266964463
725 G>V No ClinGen
gnomAD
CA8612975
rs146935438
730 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377137839
CA8612976
731 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749913183
CA8612977
731 R>H No ClinGen
ExAC
gnomAD
rs1180352819
CA399876525
734 Q>H No ClinGen
gnomAD
CA8612978
rs760270356
734 Q>K No ClinGen
ExAC
gnomAD
CA399876521
rs1419028293
734 Q>P No ClinGen
gnomAD
CA8612979
rs765786466
737 E>V No ClinGen
ExAC
gnomAD
rs955601103
CA291053105
738 A>S No ClinGen
gnomAD
rs973119713
CA291053107
738 A>V No ClinGen
TOPMed
gnomAD
CA8612996
rs760464589
739 Y>C No ClinGen
ExAC
gnomAD
CA8612998
rs753325510
740 D>N No ClinGen
ExAC
gnomAD
rs1598210564
CA399876689
742 Q>K No ClinGen
Ensembl
CA8612999
rs201901138
743 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8613001
rs751908102
745 G>S No ClinGen
ExAC
gnomAD
CA8613003
rs781333055
748 F>C No ClinGen
ExAC
gnomAD
CA8613002
rs757622766
748 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1174247103
CA399876833
751 L>M No ClinGen
gnomAD
rs756393210
CA8613005
753 M>V No ClinGen
ExAC
gnomAD
CA8613006
rs780161644
754 R>C No ClinGen
ExAC
gnomAD
rs780161644
CA8613007
754 R>G No ClinGen
ExAC
gnomAD
CA8613008
rs768597957
754 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs773211654
CA8613012
760 Y>C No ClinGen
ExAC
rs771982074
CA8613011
760 Y>D No ClinGen
ExAC
gnomAD
CA8613013
rs140767111
762 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770753366
CA8613014
762 R>H No ClinGen
ExAC
gnomAD
CA8613015
rs776153031
763 S>G No ClinGen
ExAC
gnomAD
CA399877056
rs1216976473
765 I>F No ClinGen
gnomAD
rs1260313959
CA399877072
766 T>N No ClinGen
gnomAD
CA8613016
rs201792365
767 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs150127230
CA8613017
767 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399877081
rs150127230
767 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1750089
rs938536726
CA291053310
770 R>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs774732222
CA8613018
770 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs762365100
CA8613019
771 E>G No ClinGen
ExAC
gnomAD
rs1414092802
CA399877133
772 Q>K No ClinGen
gnomAD
rs1422624335
CA399877155
773 R>Q No ClinGen
TOPMed
CA8613020
rs371426654
773 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8613022
rs756280599
775 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8613021
rs201146629
775 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766542702
CA8613023
776 E>* No ClinGen
ExAC
gnomAD
rs531139502
CA291053324
776 E>A No ClinGen
1000Genomes
ExAC
gnomAD
CA8613024
rs531139502
776 E>V No ClinGen
1000Genomes
ExAC
gnomAD
CA399877275
rs1598210910
782 D>A No ClinGen
Ensembl
CA8613026
rs779109591
783 R>C No ClinGen
ExAC
gnomAD
rs545973902
CA8613027
783 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1305354353
CA399877318
785 M>I No ClinGen
gnomAD
rs138585179
CA8613028
788 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399877374
rs1196016475
790 R>C No ClinGen
TOPMed
rs112546177
CA8613030
790 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112546177
CA399877376
790 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8613031
COSM1479660
rs770575234
792 P>L breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1049942929
COSM1644616
CA291053339
793 R>C salivary_gland [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA8613033
rs376185893
795 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399877423
rs1425409048
795 P>S No ClinGen
gnomAD
CA399877439
rs1422164677
796 E>G No ClinGen
gnomAD
CA291053346
rs1006652541
796 E>K No ClinGen
TOPMed
CA8613036
rs138140582
797 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1679877
rs768034689
CA8613038
797 R>H haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs768034689
CA8613037
797 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs867770416
CA291053357
798 M>I No ClinGen
Ensembl
CA8613039
rs200065435
808 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399877612
rs1243814433
809 D>E No ClinGen
TOPMed
gnomAD
CA399877621
rs1431799553
810 T>R No ClinGen
gnomAD
CA399877623
rs1275182718
811 A>T No ClinGen
gnomAD
rs142695981
CA8613041
812 Q>H No ClinGen
ESP
ExAC
gnomAD
CA8613042
rs755296947
813 L>M No ClinGen
ExAC
gnomAD
CA399877688
rs1231111963
816 P>L No ClinGen
gnomAD
CA291053373
COSM560953
rs867659204
816 P>S lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1187333085
CA399877744
817 Q>E No ClinGen
TOPMed
CA8613066
rs751528209
819 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA399877814
rs1450925557
822 I>T No ClinGen
gnomAD
rs1230055512
CA399877828
823 A>G No ClinGen
gnomAD
rs750281251
CA8613069
826 M>V No ClinGen
ExAC
gnomAD
CA291053440
rs924585621
828 I>V No ClinGen
Ensembl
CA8613071
rs375366550
829 K>Q No ClinGen
ESP
ExAC
gnomAD
CA399877915
rs1274890491
829 K>R No ClinGen
gnomAD
rs1262504603
CA399877970
832 D>E No ClinGen
gnomAD
rs1321066530
CA399878013
835 R>C No ClinGen
TOPMed
gnomAD
CA8613073
rs768142969
836 Q>R No ClinGen
ExAC
gnomAD
CA399878066
rs1284457108
839 E>K No ClinGen
gnomAD
CA399878065
rs1284457108
839 E>Q No ClinGen
gnomAD
CA399879412
rs1189352173
840 I>V No ClinGen
gnomAD
CA399879440
rs1271364656
843 A>T No ClinGen
TOPMed
rs764262508
CA8613082
844 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA399879531
rs1423011824
848 M>I No ClinGen
TOPMed
gnomAD
CA8613083
rs777832776
848 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs777832776
CA399879514
848 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs767522144
CA8613085
853 R>C No ClinGen
ExAC
gnomAD
rs750118534
CA8613086
853 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs755952090
CA8613087
855 A>P No ClinGen
ExAC
gnomAD
rs774880082
CA291053602
856 A>V No ClinGen
Ensembl
CA399879703
COSM3691625
rs1329541247
857 Y>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1316661489
CA399879760
860 R>Q No ClinGen
TOPMed
gnomAD
rs201789328
CA8613090
866 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA8613104
rs760674178
870 M>I No ClinGen
ExAC
gnomAD
rs773190000
CA8613103
870 M>T No ClinGen
ExAC
gnomAD
CA399880021
rs1334216884
872 S>L No ClinGen
TOPMed
rs753685956
CA8613106
874 D>N No ClinGen
ExAC
gnomAD
CA8613107
rs754579127
875 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8613108
rs764905564
875 R>H No ClinGen
ExAC
gnomAD
rs1278665149
CA399880074
876 K>E No ClinGen
TOPMed
rs752076747
CA8613109
878 T>M No ClinGen
ExAC
gnomAD
rs777203363
CA8613111
879 L>V No ClinGen
ExAC
gnomAD
CA8613112
rs746379373
881 H>Q No ClinGen
ExAC
gnomAD
CA399880256
rs1567973323
887 I>L No ClinGen
Ensembl
rs1440130320
CA399880292
888 A>V No ClinGen
TOPMed
CA399880295
rs1598212936
889 E>K No ClinGen
Ensembl
CA399880327
rs929657813
890 K>N No ClinGen
TOPMed
gnomAD
CA8613113
rs756724766
891 Y>D No ClinGen
ExAC
gnomAD
CA399880339
rs1598212974
891 Y>S No ClinGen
Ensembl
rs1463982347
CA399880354
892 P>A No ClinGen
gnomAD
CA8613114
rs780542974
892 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8613115
rs749692341
893 Q>K No ClinGen
ExAC
gnomAD
CA8613116
rs768933779
896 G>V No ClinGen
ExAC
gnomAD
CA8613120
rs376766535
900 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs533362698
CA8613122
902 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA399880521
rs1265611166
902 H>R No ClinGen
gnomAD
CA8613121
rs562693449
902 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399880565
rs1204975227
905 D>N No ClinGen
gnomAD
CA399880621
rs1466671388
908 G>C No ClinGen
gnomAD
rs141887433
CA8613147
913 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291053757
rs1044059525
914 S>G No ClinGen
TOPMed
gnomAD
rs751074259
CA8613148
915 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA291053762
rs1002636776
917 A>T No ClinGen
Ensembl
CA8613149
rs150643495
917 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1360618342
CA399880748
918 D>V No ClinGen
TOPMed
rs1378125033
CA399880759
920 R>C No ClinGen
TOPMed
gnomAD
CA8613152
rs755479906
COSM1383789
920 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1567973665
CA399880769
922 L>V No ClinGen
Ensembl
rs753028987
CA8613154
924 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs374954022
CA8613155
925 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1229565731
CA399880817
930 Q>E No ClinGen
gnomAD
CA8613156
rs777867078
930 Q>H No ClinGen
ExAC
gnomAD
rs1224698219
CA399880843
933 F>S No ClinGen
gnomAD
rs377725425
CA399880852
935 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399880853
rs1351822937
935 R>Q No ClinGen
gnomAD
CA8613157
rs377725425
935 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1292556709
CA399880860
936 Q>R No ClinGen
gnomAD
rs781312546
CA8613159
942 L>F No ClinGen
ExAC
CA399880912
rs1451162967
943 K>R No ClinGen
TOPMed
gnomAD
rs1011860629
CA291053790
946 L>V No ClinGen
Ensembl
CA399880943
rs1476471320
948 A>T No ClinGen
TOPMed
CA399880953
rs1480810131
949 N>S No ClinGen
TOPMed
gnomAD
COSM3402943
CA8613162
rs775304686
950 S>L central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1021453769
CA291053797
951 P>S No ClinGen
Ensembl
rs1446065231
CA399880984
954 D>Y No ClinGen
gnomAD
rs1403103144
CA399881013
958 A>V No ClinGen
gnomAD
rs147281184
CA8613165
959 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761626118
CA8613166
961 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA8613167
rs767106626
962 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA399881038
rs750004915
962 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs750004915
CA8613168
962 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs774659812
CA8613212
965 E>G No ClinGen
ExAC
gnomAD
rs761065324
CA291053911
966 A>V No ClinGen
Ensembl
CA399881123
rs1258560359
968 E>D No ClinGen
TOPMed
rs762170948
CA8613214
974 F>Y No ClinGen
ExAC
gnomAD
CA8613215
rs544427015
975 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA399881188
rs1316660672
978 P>A No ClinGen
TOPMed
CA399881189
rs1316660672
978 P>S No ClinGen
TOPMed
rs750598051
CA8613216
979 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8613217
rs760997426
980 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA399881200
rs1598214305
980 T>P No ClinGen
Ensembl
CA399881216
rs1381177347
982 S>F No ClinGen
gnomAD
CA399881218
rs945650795
983 P>A No ClinGen
TOPMed
gnomAD
rs945650795
CA291053921
983 P>S No ClinGen
TOPMed
gnomAD
rs1393028157
CA399881224
984 G>D No ClinGen
TOPMed
CA291053923
rs1043681001
984 G>S No ClinGen
TOPMed
gnomAD
rs754924270
CA8613222
990 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1329066576
CA399881265
990 F>L No ClinGen
gnomAD
CA291053935
rs201948794
991 S>G No ClinGen
1000Genomes
CA8613223
rs778995612
992 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8613224
rs145693762
992 R>H No ClinGen
ESP
ExAC
gnomAD
CA291053942
rs560470776
994 I>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8613225
rs560470776
994 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399881303
rs1237574342
996 A>G No ClinGen
gnomAD
rs1366834705
CA399881341
1000 A>T No ClinGen
gnomAD
rs1171384730
CA399881349
1001 E>* No ClinGen
gnomAD
rs1379483740
CA399881378
1005 E>* No ClinGen
gnomAD
CA8613246
rs780903704
1006 Q>E No ClinGen
ExAC
gnomAD
CA291054004
rs914087894
1006 Q>P No ClinGen
TOPMed
gnomAD
rs1309933440
CA399881397
1007 W>* No ClinGen
gnomAD
rs745326051
CA8613247
1010 E>K No ClinGen
ExAC
gnomAD
rs769281801
CA8613248
1011 A>T No ClinGen
ExAC
gnomAD
CA8613250
rs748632258
1012 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA399881437
rs1197164603
1013 A>V No ClinGen
TOPMed
gnomAD
CA8613251
rs772655362
1014 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs773406820
CA8613252
1015 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1313278764
CA399881457
1016 A>V No ClinGen
TOPMed
rs1254168226
CA399881460
1017 G>D No ClinGen
gnomAD
CA8613253
rs143059535
1017 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143059535
CA8613254
1017 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8613256
rs201370247
COSM1207295
1018 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs151174346
CA8613258
1021 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151174346
CA8613259
1021 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399881490
rs1465219444
1022 G>D No ClinGen
TOPMed
gnomAD
CA399881486
rs1359578900
1022 G>S No ClinGen
gnomAD
rs1598214971
CA399881492
1023 K>Q No ClinGen
Ensembl
rs751247758
CA8613261
1024 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs757090305
CA399881505
1025 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs757090305
CA8613262
1025 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8613263
rs767275037
COSM1710385
1027 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA291054032
rs765383101
1027 P>S No ClinGen
Ensembl
CA399881522
rs1195770774
1028 A>T No ClinGen
TOPMed
rs1318650247
CA399881531
1029 P>L No ClinGen
TOPMed
CA8613265
rs534181387
1029 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8613309
rs757747056
1032 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399882364
rs1450511148
1033 P>S No ClinGen
gnomAD
rs1384947964
CA399882405
1035 A>S No ClinGen
TOPMed
gnomAD
rs199676283
CA291054122
1035 A>V No ClinGen
1000Genomes
rs750761402
CA399882416
1036 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs142743370
CA8613312
1036 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750761402
CA8613311
1036 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs780634604
CA8613313
1037 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs946995269
CA291054128
1037 R>W No ClinGen
TOPMed
gnomAD
CA399882494
rs1598215809
1041 D>N No ClinGen
Ensembl
rs768810674
CA399882544
1044 S>C No ClinGen
ExAC
gnomAD
rs768810674
CA8613315
1044 S>F No ClinGen
ExAC
gnomAD
rs779009445
CA8613316
1048 R>G No ClinGen
ExAC
gnomAD
rs150981509
CA8613317
1048 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779009445
CA291054142
1048 R>W No ClinGen
ExAC
gnomAD
CA8613319
rs773117099
1049 R>K No ClinGen
ExAC
gnomAD
CA291054150
rs200730343
1052 K>Q No ClinGen
TOPMed
gnomAD
CA8613320
rs760670070
1056 I>T No ClinGen
ExAC
gnomAD
rs1170369143
CA399882776
1059 S>G No ClinGen
gnomAD
rs1233516687
CA399882780
1059 S>N No ClinGen
TOPMed
rs35569365
CA399882791
1059 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs181564542
CA8613322
1060 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs181564542
CA8613323
1060 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA291054157
rs923283973
1061 R>H No ClinGen
TOPMed
gnomAD
CA399882831
rs1598215945
1062 D>N No ClinGen
Ensembl
rs1298489561
CA399882856
1063 G>R No ClinGen
TOPMed
CA399883833
rs1370317879
1073 K>Q No ClinGen
gnomAD
rs775396711
CA8613366
1074 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs775396711
CA399883859
1074 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA399883872
rs1567975480
1076 P>H No ClinGen
Ensembl
rs748927571
CA8613367
1077 F>C No ClinGen
ExAC
gnomAD
CA8613369
rs768445927
1078 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs768445927
CA8613368
1078 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1331562332
CA399883921
1079 A>D No ClinGen
gnomAD
COSM980130
rs761421986
CA399883935
1080 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8613370
rs761421986
1080 R>P No ClinGen
ExAC
gnomAD
rs767111106
CA8613372
1081 T>S No ClinGen
ExAC
gnomAD
rs1399567544
CA399883968
1082 G>A No ClinGen
TOPMed
CA399883957
rs1340627486
1082 G>S No ClinGen
TOPMed
gnomAD
CA399883974
rs1332130709
1083 K>Q No ClinGen
TOPMed
rs760126685
CA8613375
1084 R>P No ClinGen
ExAC
gnomAD
rs370763888
CA291054265
1087 R>Q No ClinGen
gnomAD
CA399884038
rs1467307071
1087 R>W No ClinGen
TOPMed
CA291054268
rs896139824
1089 L>F No ClinGen
TOPMed
gnomAD
rs1259153511
CA399884113
1092 A>D No ClinGen
gnomAD
CA399884121
rs1164404485
1093 S>G No ClinGen
TOPMed
CA291054276
rs1013246358
1095 G>V No ClinGen
TOPMed
rs1443079375
CA399884240
1101 L>E No ClinGen
gnomAD
rs1415727757
CA399884243
1101 L>W No ClinGen
TOPMed

No associated diseases with O95466

5 regional properties for O95466

Type Name Position InterPro Accession
domain Formin, FH3 domain 284 - 637 IPR010472
domain Formin, GTPase-binding domain 27 - 281 IPR010473
domain Diaphanous autoregulatory (DAD) domain 1059 - 1090 IPR014767
domain Rho GTPase-binding/formin homology 3 (GBD/FH3) domain 27 - 468 IPR014768
domain Formin, FH2 domain 632 - 1067 IPR015425

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cell membrane ; Lipid-anchor
  • Cytoplasmic vesicle, phagosome
  • Recruited to actin-rich phagosomes during phagocytosis
  • Translocates to the plasma membrane upon activation by RAC1 (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
bleb A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. [GOC:mtg_apoptosis, PMID:12083798, PMID:16624291, Wikipedia:Bleb_(cell_biology)]
cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
phagocytic vesicle A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
GTPase activating protein binding Binding to a GTPase activating protein.
small GTPase binding Binding to a small monomeric GTPase.

4 GO annotations of biological process

Name Definition
actin filament severing The process in which an actin filament is broken down into smaller filaments.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cortical actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
regulation of cell shape Any process that modulates the surface configuration of a cell.

18 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A0A1D5P556 DAAM2 Disheveled-associated activator of morphogenesis 2 Gallus gallus (Chicken) SS
Q9VUC6 Frl Formin-like protein Drosophila melanogaster (Fruit fly) EV
Q27J81 INF2 Inverted formin-2 Homo sapiens (Human) EV
Q9Y4D1 DAAM1 Disheveled-associated activator of morphogenesis 1 Homo sapiens (Human) EV
Q86T65 DAAM2 Disheveled-associated activator of morphogenesis 2 Homo sapiens (Human) SS
Q8IVF7 FMNL3 Formin-like protein 3 Homo sapiens (Human) SS
Q96PY5 FMNL2 Formin-like protein 2 Homo sapiens (Human) SS
Q80U19 Daam2 Disheveled-associated activator of morphogenesis 2 Mus musculus (Mouse) SS
Q8BPM0 Daam1 Disheveled-associated activator of morphogenesis 1 Mus musculus (Mouse) PR
Q0GNC1 Inf2 Inverted formin-2 Mus musculus (Mouse) SS
Q0QWG9 Grid2ip Delphilin Mus musculus (Mouse) PR
A2APV2 Fmnl2 Formin-like protein 2 Mus musculus (Mouse) SS
Q6ZPF4 Fmnl3 Formin-like protein 3 Mus musculus (Mouse) SS
Q9JL26 Fmnl1 Formin-like protein 1 Mus musculus (Mouse) SS
Q9C7S1 FH12 Formin-like protein 12 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LH02 FH17 Formin-like protein 17 Arabidopsis thaliana (Mouse-ear cress) PR
P0C5K4 FH21A Putative formin-like protein 21a Arabidopsis thaliana (Mouse-ear cress) PR
Q9FF14 FH19 Formin-like protein 19 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MGNAAGSAEQ PAGPAAPPPK QPAPPKQPMP AAGELEERFN RALNCMNLPP DKVQLLSQYD
70 80 90 100 110 120
NEKKWELICD QERFQVKNPP AAYIQKLKSY VDTGGVSRKV AADWMSNLGF KRRVQESTQV
130 140 150 160 170 180
LRELETSLRT NHIGWVQEFL NEENRGLDVL LEYLAFAQCS VTYDMESTDN GASNSEKNKP
190 200 210 220 230 240
LEQSVEDLSK GPPSSVPKSR HLTIKLTPAH SRKALRNSRI VSQKDDVHVC IMCLRAIMNY
250 260 270 280 290 300
QSGFSLVMNH PACVNEIALS LNNKNPRTKA LVLELLAAVC LVRGGHDIIL AAFDNFKEVC
310 320 330 340 350 360
GEQHRFEKLM EYFRNEDSNI DFMVACMQFI NIVVHSVENM NFRVFLQYEF THLGLDLYLE
370 380 390 400 410 420
RLRLTESDKL QVQIQAYLDN IFDVGALLED TETKNAVLEH MEELQEQVAL LTERLRDAEN
430 440 450 460 470 480
ESMAKIAELE KQLSQARKEL ETLRERFSES TAMGPSRRPP EPEKAPPAAP TRPSALELKV
490 500 510 520 530 540
EELEEKGLIR ILRGPGDAVS IEILPVAVAT PSGGDAPTPG VPTGSPSPDL APAAEPAPGA
550 560 570 580 590 600
APPPPPPLPG LPSPQEAPPS APPQAPPLPG SPEPPPAPPL PGDLPPPPPP PPPPPGTDGP
610 620 630 640 650 660
VPPPPPPPPP PPGGPPDALG RRDSELGPGV KAKKPIQTKF RMPLLNWVAL KPSQITGTVF
670 680 690 700 710 720
TELNDEKVLQ ELDMSDFEEQ FKTKSQGPSL DLSALKSKAA QKAPSKATLI EANRAKNLAI
730 740 750 760 770 780
TLRKGNLGAE RICQAIEAYD LQALGLDFLE LLMRFLPTEY ERSLITRFER EQRPMEELSE
790 800 810 820 830 840
EDRFMLCFSR IPRLPERMTT LTFLGNFPDT AQLLMPQLNA IIAASMSIKS SDKLRQILEI
850 860 870 880 890 900
VLAFGNYMNS SKRGAAYGFR LQSLDALLEM KSTDRKQTLL HYLVKVIAEK YPQLTGFHSD
910 920 930 940 950 960
LHFLDKAGSV SLDSVLADVR SLQRGLELTQ REFVRQDDCM VLKEFLRANS PTMDKLLADS
970 980 990 1000 1010 1020
KTAQEAFESV VEYFGENPKT TSPGLFFSLF SRFIKAYKKA EQEVEQWKKE AAAQEAGADT
1030 1040 1050 1060 1070 1080
PGKGEPPAPK SPPKARRPQM DLISELKRRQ QKEPLIYESD RDGAIEDIIT VIKTVPFTAR
1090
TGKRTSRLLC EASLGEEMPL