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

5 structures for P83111

Entry ID Method Resolution Chain Position Source
7ULW EM 310 A A/B/C/D/E/F 97-547 PDB
7V1Y EM 282 A A/B/C/D 63-547 PDB
7V1Z EM 298 A A/B/C/D 63-547 PDB
7V21 EM 308 A A/B/C/D 63-547 PDB
AF-P83111-F1 Predicted AlphaFoldDB

451 variants for P83111

Variant ID(s) Position Change Description Diseaes Association Provenance
CA392719283
rs1318497200
2 Y>* No ClinGen
gnomAD
rs745611187
CA7601219
2 Y>F No ClinGen
ExAC
gnomAD
rs1260013052
CA392719289
3 R>Q No ClinGen
gnomAD
rs771795019
CA392719288
3 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs775466256
CA392719296
4 L>F No ClinGen
ExAC
gnomAD
CA7601221
rs775466256
4 L>I No ClinGen
ExAC
gnomAD
CA392719312
CA7601223
rs556450517
5 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs34317102
CA392719305
CA7601222
5 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA392719308
rs1453922185
5 M>T No ClinGen
gnomAD
CA392719303
rs34317102
5 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1410523635
CA392719320
CA392719319
6 S>* No ClinGen
gnomAD
CA392719322
rs1410523635
6 S>L No ClinGen
gnomAD
rs776188282
CA7601224
7 A>E No ClinGen
ExAC
gnomAD
CA392719346
rs1350934455
9 T>A No ClinGen
gnomAD
CA392719361
rs1368111153
10 A>D No ClinGen
gnomAD
rs1324528387
CA392719357
10 A>T No ClinGen
gnomAD
CA392719364
rs1368111153
10 A>V No ClinGen
gnomAD
CA7601225
rs761314159
11 R>G No ClinGen
ExAC
gnomAD
CA272039337
rs1019486651
11 R>Q No ClinGen
TOPMed
gnomAD
rs761314159
CA392719368
11 R>W No ClinGen
ExAC
gnomAD
rs1595712120
CA392719379
12 A>G No ClinGen
Ensembl
CA7601226
rs764809586
12 A>T No ClinGen
ExAC
gnomAD
CA7601227
rs750094530
13 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA392719389
rs1215464278
13 A>V No ClinGen
gnomAD
CA7601229
rs767825159
14 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA392719408
rs1468824714
15 P>H No ClinGen
gnomAD
rs1234763364
CA392719403
15 P>T No ClinGen
gnomAD
RCV000957298
CA210225
RCV000201410
CA7601230
rs34925488
16 G>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7601232
rs778350908
17 G>D No ClinGen
ExAC
gnomAD
CA7601231
rs139879323
17 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7601233
rs753912650
21 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs757436737
CA392719482
21 S>N No ClinGen
ExAC
gnomAD
CA7601234
rs757436737
21 S>T No ClinGen
ExAC
gnomAD
TCGA novel 24 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs34297800
CA7601235
RCV000957299
25 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7601236
rs34297800
25 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs926506385
CA272039425
27 V>I No ClinGen
TOPMed
CA392719540
rs1439603440
30 R>C No ClinGen
gnomAD
CA392719557
rs1048982587
33 L>V No ClinGen
TOPMed
CA7601238
rs779768860
34 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA392719561
rs1409806641
34 P>T No ClinGen
TOPMed
CA392719581
rs1334088859
37 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA392719579
rs1291347840
37 G>R No ClinGen
TOPMed
gnomAD
CA392719578
rs1291347840
37 G>S No ClinGen
TOPMed
gnomAD
CA392719588
rs1487375349
38 H>R No ClinGen
TOPMed
CA392719604
CA7601240
rs768408264
40 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1275231905
CA392719598
40 W>R No ClinGen
gnomAD
CA272039456
rs908723529
41 V>G No ClinGen
Ensembl
rs1330668515
CA392719641
47 G>R No ClinGen
TOPMed
CA272039474
rs1040216846
51 A>S No ClinGen
TOPMed
gnomAD
rs1417685394
CA392719665
51 A>V No ClinGen
gnomAD
CA392719667
rs1454778096
52 L>I No ClinGen
gnomAD
CA272039502
rs901669698
53 G>A No ClinGen
gnomAD
CA392719674
rs901669698
53 G>E No ClinGen
gnomAD
rs761260684
CA7601242
CA392719673
53 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs761260684
CA272039497
53 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA392719679
rs1595712251
54 V>A No ClinGen
Ensembl
rs1009327150
CA272039503
57 A>G No ClinGen
Ensembl
CA272039504
rs1009327150
57 A>V No ClinGen
Ensembl
CA392719707
rs1421003653
59 G>R No ClinGen
gnomAD
CA392719716
rs1455519051
61 R>G No ClinGen
TOPMed
rs1566988356
CA392719731
63 A>P No ClinGen
Ensembl
rs1021095638
CA272039509
63 A>V No ClinGen
Ensembl
rs769320798
CA7601243
64 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA272039517
rs1008166998
65 P>L No ClinGen
TOPMed
TCGA novel 66 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA272039550
rs966582560
68 S>C No ClinGen
TOPMed
gnomAD
rs966582560
CA392719761
68 S>F No ClinGen
TOPMed
gnomAD
rs1000558324
CA272039548
68 S>P No ClinGen
Ensembl
CA7601245
rs762573699
70 A>E No ClinGen
ExAC
gnomAD
rs772833685
CA7601244
70 A>T No ClinGen
ExAC
gnomAD
CA392719774
rs1337522339
71 A>S No ClinGen
gnomAD
CA392719777
rs1214119006
71 A>V No ClinGen
gnomAD
CA272039559
rs1033334829
72 P>L No ClinGen
gnomAD
rs1434681792
CA392719779
72 P>T No ClinGen
gnomAD
rs1209124514
CA392719783
73 D>N No ClinGen
gnomAD
rs1257289041
CA392719791
74 P>T No ClinGen
gnomAD
CA392719800
rs1595712310
75 E>A No ClinGen
Ensembl
CA272039573
rs992409261
77 S>* No ClinGen
Ensembl
CA272039568
rs959647146
77 S>T No ClinGen
TOPMed
gnomAD
rs1240934900
CA392719822
79 L>V No ClinGen
TOPMed
gnomAD
rs1465997745
CA392719826
80 A>T No ClinGen
TOPMed
CA392719831
rs1371217657
80 A>V No ClinGen
gnomAD
rs1474135633
CA392719832
81 E>K No ClinGen
TOPMed
gnomAD
rs1231666157
CA392719858
84 Q>H No ClinGen
TOPMed
rs1258352731
CA392719856
84 Q>L No ClinGen
TOPMed
TCGA novel 84 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1330933766
CA392719877
87 S>P No ClinGen
TOPMed
CA392719890
rs1395243046
89 A>S No ClinGen
gnomAD
rs1566988427
CA392719893
89 A>V No ClinGen
Ensembl
CA392719898
rs767923145
90 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7601246
rs767923145
90 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA7601248
rs761116317
92 S>F No ClinGen
ExAC
gnomAD
CA392719914
rs1320187078
93 P>A No ClinGen
gnomAD
CA392719918
rs1324631782
93 P>R No ClinGen
gnomAD
CA392719913
rs1320187078
93 P>T No ClinGen
gnomAD
CA272039655
rs931376974
95 T>N No ClinGen
TOPMed
gnomAD
CA272039684
rs943328168
96 P>L No ClinGen
TOPMed
gnomAD
CA272039683
rs943328168
96 P>Q No ClinGen
TOPMed
gnomAD
rs757381709
CA272039675
96 P>S No ClinGen
ExAC
gnomAD
rs757381709
CA7601251
96 P>T No ClinGen
ExAC
gnomAD
CA392719939
rs1354862239
97 A>E No ClinGen
gnomAD
CA392719937
rs1354862239
97 A>V No ClinGen
gnomAD
rs1282705282
CA392719948
99 P>S No ClinGen
gnomAD
CA7601253
rs750643781
101 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs992430035
CA272039723
103 C>W No ClinGen
TOPMed
rs780326976
CA7601255
103 C>Y No ClinGen
ExAC
gnomAD
rs1319732758
CA392719988
105 A>S No ClinGen
TOPMed
gnomAD
rs917770897
CA272039734
105 A>V No ClinGen
TOPMed
CA7601256
rs746721789
106 R>G No ClinGen
ExAC
gnomAD
CA7601258
rs781063730
107 A>T No ClinGen
ExAC
gnomAD
rs1160089168
CA392720151
108 I>F No ClinGen
TOPMed
gnomAD
rs1400065234
CA392720155
108 I>M No ClinGen
TOPMed
gnomAD
CA392720154
rs1382642791
108 I>S No ClinGen
gnomAD
CA392720153
rs1382642791
108 I>T No ClinGen
gnomAD
rs748119566
CA7601259
109 E>V No ClinGen
ExAC
gnomAD
CA392720164
rs1396751227
110 S>G No ClinGen
gnomAD
CA392720174
rs1344931866
111 S>N No ClinGen
TOPMed
CA392720187
rs1302936074
113 D>Y No ClinGen
gnomAD
CA392720207
rs748838431
116 H>L No ClinGen
ExAC
gnomAD
CA7601262
rs748838431
116 H>R No ClinGen
ExAC
gnomAD
CA272039777
rs201581882
117 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201581882
CA7601263
117 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1214827658
CA392720217
118 I>V No ClinGen
gnomAD
rs1236422103
CA392720223
119 K>E No ClinGen
gnomAD
rs1275670265
CA392720228
119 K>N No ClinGen
TOPMed
gnomAD
CA392720256
rs1368705030
122 V>M No ClinGen
TOPMed
CA7601291
rs553328061
123 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA392720279
rs1229053497
126 G>S No ClinGen
gnomAD
CA7601294
rs775511153
127 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1456599781
CA392720289
127 I>M No ClinGen
TOPMed
CA272040331
rs775511153
127 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 129 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 131 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595712790
CA392720313
131 V>G No ClinGen
Ensembl
CA272040360
rs910930306
134 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA392720330
rs1211288563
134 D>V No ClinGen
gnomAD
rs1259387551
CA392720336
135 G>E No ClinGen
gnomAD
TCGA novel 137 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1458834497
CA392720373
140 S>* No ClinGen
TOPMed
CA7601296
rs767735544
141 E>D No ClinGen
ExAC
gnomAD
rs1194766963
CA392721233
144 G>S No ClinGen
TOPMed
CA7601313
rs759627744
144 G>V No ClinGen
ExAC
gnomAD
CA7601314
rs767680456
146 A>T No ClinGen
ExAC
gnomAD
rs1472079411
CA392721333
147 D>E No ClinGen
gnomAD
rs752950180
CA7601315
147 D>V No ClinGen
ExAC
gnomAD
CA392721378
rs1347424920
149 E>D No ClinGen
gnomAD
CA392721367
rs1444806023
149 E>Q No ClinGen
TOPMed
rs760433188
CA7601316
151 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 152 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA272044169
rs528872860
152 V>I No ClinGen
1000Genomes
rs1387240178
CA392721439
153 P>A No ClinGen
gnomAD
CA392721468
rs1419045863
154 C>W No ClinGen
gnomAD
rs1261729823
CA392721471
155 K>E No ClinGen
TOPMed
CA272044179
rs994505528
157 E>A No ClinGen
gnomAD
CA392721489
rs1368336615
157 E>D No ClinGen
gnomAD
CA392721487
rs994505528
157 E>G No ClinGen
gnomAD
rs1223247483
CA392721496
158 T>I No ClinGen
TOPMed
TCGA novel 160 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392721508
rs1218382630
160 M>T No ClinGen
gnomAD
rs763998435
CA7601317
161 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA392721515
rs1318554352
161 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA272044196
rs141345466
163 A>V No ClinGen
ESP
CA392721529
rs1213516285
164 S>G No ClinGen
gnomAD
CA392721543
rs1428842499
166 S>R No ClinGen
TOPMed
CA7601318
rs753707105
167 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 168 S>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 169 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1408206470
CA392721586
171 M>I No ClinGen
TOPMed
CA392721579
rs1215652228
171 M>V No ClinGen
TOPMed
gnomAD
rs757284857
CA7601319
175 A>P No ClinGen
ExAC
gnomAD
rs1488296899
CA392721614
176 K>R No ClinGen
TOPMed
gnomAD
CA392721615
rs1488296899
176 K>T No ClinGen
TOPMed
gnomAD
rs778720573
CA7601320
177 L>V No ClinGen
ExAC
gnomAD
TCGA novel 181 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 185 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 187 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1020479854
CA272044293
188 P>L No ClinGen
TOPMed
gnomAD
rs753526102
CA7601322
188 P>S No ClinGen
ExAC
gnomAD
CA392721703
rs1327364159
189 V>A No ClinGen
gnomAD
CA7601323
rs779810437
189 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1347702142
CA392721728
193 V>I No ClinGen
gnomAD
CA7601324
rs746697600
195 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 197 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7601326
rs376443763
200 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA272044305
rs76611228
201 Y>* No ClinGen
1000Genomes
gnomAD
rs1319073824
CA392721788
201 Y>C No ClinGen
TOPMed
rs1260320609
CA392721796
202 E>G No ClinGen
TOPMed
CA7601328
rs771415441
203 G>D No ClinGen
ExAC
gnomAD
CA7601327
rs749623514
203 G>R No ClinGen
ExAC
gnomAD
rs774864003
CA7601329
205 K>N No ClinGen
ExAC
CA392721833
rs1416524119
206 V>A No ClinGen
gnomAD
CA392721853
rs1291411758
210 T>A No ClinGen
gnomAD
rs368829983
CA7601343
211 R>G No ClinGen
ESP
ExAC
gnomAD
rs766032294
CA7601344
211 R>I No ClinGen
ExAC
gnomAD
CA392721863
rs751240045
211 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs754596627
CA7601346
213 L>P No ClinGen
ExAC
gnomAD
CA7601347
rs780725423
216 H>Q No ClinGen
ExAC
gnomAD
CA392721934
COSM963664
rs1486880436
221 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs142422927
CA7601348
221 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755533365
CA272044559
222 H>P No ClinGen
gnomAD
CA392721948
rs755533365
222 H>R No ClinGen
gnomAD
CA7601349
rs757597249
223 Y>D No ClinGen
ExAC
gnomAD
CA7601350
rs779362563
223 Y>S No ClinGen
ExAC
gnomAD
TCGA novel 224 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746424994
CA7601351
225 K>N No ClinGen
ExAC
gnomAD
CA7601352
rs772125791
228 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA392722096
rs1339821752
233 E>K No ClinGen
TOPMed
gnomAD
CA392722097
rs1339821752
233 E>Q No ClinGen
TOPMed
gnomAD
CA392722129
rs1291212766
235 A>D No ClinGen
TOPMed
CA7601355
rs768865373
235 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs776738955
CA7601356
236 Y>H No ClinGen
ExAC
gnomAD
CA392722161
rs1227904284
238 A>T No ClinGen
gnomAD
CA392722168
rs1304528542
238 A>V No ClinGen
gnomAD
CA7601357
rs761627317
239 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1317496435
CA392722195
240 K>R No ClinGen
TOPMed
CA7601358
rs765161553
241 M>I No ClinGen
ExAC
gnomAD
CA7601359
rs773258779
242 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA272044614
rs930437390
243 K>Q No ClinGen
TOPMed
CA272044615
rs113115012
245 N>S No ClinGen
Ensembl
TCGA novel 247 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7601360
rs763038053
249 E>K No ClinGen
ExAC
gnomAD
rs763038053
CA392722390
249 E>Q No ClinGen
ExAC
gnomAD
CA7601361
rs765980175
250 Q>E No ClinGen
ExAC
gnomAD
rs984588886
CA272044640
251 E>Q No ClinGen
TOPMed
gnomAD
rs751058328
CA7601362
252 K>R No ClinGen
ExAC
gnomAD
TCGA novel 253 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595714841
CA392722491
253 E>K No ClinGen
Ensembl
rs754471151
CA7601363
254 G>V No ClinGen
ExAC
gnomAD
CA7601364
rs34536322
255 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752336094
CA7601365
255 K>R No ClinGen
ExAC
gnomAD
CA272044691
rs966323504
256 S>N No ClinGen
Ensembl
rs750803911
CA272044703
257 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1401193349
CA618954928
259 K>N No ClinGen
gnomAD
rs779309517
CA7601368
259 K>N No ClinGen
ExAC
rs1566990528
CA392722627
259 K>T No ClinGen
Ensembl
rs746371664
CA7601369
260 N>K No ClinGen
ExAC
rs758834671
CA7601370
261 D>N No ClinGen
ExAC
gnomAD
CA392722655
rs1386537785
261 D>V No ClinGen
gnomAD
CA392722648
rs758834671
261 D>Y No ClinGen
ExAC
gnomAD
CA7601371
rs780550541
262 F>V No ClinGen
ExAC
gnomAD
CA392722679
rs1486870661
264 K>R No ClinGen
gnomAD
CA7601373
rs182421897
265 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA272044798
rs140622762
267 T>A No ClinGen
ESP
TOPMed
gnomAD
rs896127135
CA272044807
267 T>K No ClinGen
TOPMed
gnomAD
rs748363340
CA7601375
268 E>K No ClinGen
ExAC
gnomAD
CA272044813
rs535481475
269 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7601376
rs535481475
269 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773205311
CA7601377
270 E>A No ClinGen
ExAC
gnomAD
rs375272227
CA272044815
270 E>D No ClinGen
Ensembl
CA7601378
rs762857350
271 N>S No ClinGen
ExAC
gnomAD
rs1400570916
CA392722741
273 A>V No ClinGen
TOPMed
CA7601381
rs201235539
276 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774191436
CA7601380
276 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7601382
rs766986822
277 N>Y No ClinGen
ExAC
gnomAD
CA272044925
rs531768271
279 K>E No ClinGen
Ensembl
rs1160210142
CA392722805
283 K>R No ClinGen
gnomAD
rs572687558
CA7601384
284 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs763742169
CA7601385
288 E>V No ClinGen
ExAC
gnomAD
rs1385287756
CA392722853
289 Q>H No ClinGen
gnomAD
rs750727023
CA7601386
289 Q>K No ClinGen
ExAC
gnomAD
rs758783221
CA7601387
290 G>V No ClinGen
ExAC
gnomAD
COSM1373922
CA7601390
rs755059722
291 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA392722910
rs1595714928
297 K>N No ClinGen
Ensembl
CA392722918
rs1486906885
298 F>L No ClinGen
TOPMed
CA7601394
rs770071147
300 N>K No ClinGen
ExAC
gnomAD
CA392722937
rs1357893330
301 S>* No ClinGen
gnomAD
rs142381405
CA7601397
302 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142381405
CA7601396
302 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 306 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA392722967
rs1183728548
306 R>T No ClinGen
gnomAD
CA392722971
rs1249478616
307 L>I No ClinGen
gnomAD
rs1225087331
CA392723006
311 D>G No ClinGen
TOPMed
CA392723012
rs1343308021
312 P>H No ClinGen
TOPMed
CA272045016
rs926728684
312 P>S No ClinGen
Ensembl
rs774327364
CA7601399
316 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs774327364
CA7601398
316 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA272045053
rs889186456
317 P>L No ClinGen
TOPMed
gnomAD
rs771607460
CA7601400
317 P>S No ClinGen
ExAC
gnomAD
rs199835006
CA7601412
318 G>A No ClinGen
1000Genomes
ExAC
gnomAD
rs146546670
CA7601413
319 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs111861955
CA272046497
319 S>N No ClinGen
gnomAD
rs1281724293
CA392723496
319 S>R No ClinGen
TOPMed
gnomAD
rs1595715548
CA392723528
321 F>V No ClinGen
Ensembl
rs778114499
CA7601414
322 L>F No ClinGen
ExAC
gnomAD
rs370595558
CA7601416
328 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392723646
rs1186944065
328 Y>H No ClinGen
gnomAD
CA392723684
rs1166988026
329 T>N No ClinGen
gnomAD
rs1595715568
CA392723672
329 T>P No ClinGen
Ensembl
CA7601419
rs139183549
332 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775519108
CA7601420
333 A>G No ClinGen
ExAC
gnomAD
rs915088572
CA392723746
334 I>L No ClinGen
TOPMed
rs915088572
CA272046549
334 I>V No ClinGen
TOPMed
rs1261449932
CA392723768
335 V>I No ClinGen
gnomAD
CA392723791
rs1400694052
336 E>A No ClinGen
gnomAD
rs746480283
CA392723809
337 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs746480283
CA7601421
337 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA7601422
rs186932521
338 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA392723921
rs1453297412
343 Y>F No ClinGen
gnomAD
rs930221220
CA272046575
346 Y>H No ClinGen
gnomAD
CA7601426
rs533248895
347 M>I No ClinGen
1000Genomes
ExAC
gnomAD
rs368235977
CA392723999
348 Q>* No ClinGen
gnomAD
rs368235977
CA272046594
348 Q>E No ClinGen
gnomAD
CA7601427
rs759955286
348 Q>R No ClinGen
ExAC
gnomAD
rs1199898241
CA392724056
350 I>M No ClinGen
gnomAD
rs1396651361
CA392724080
352 H>R No ClinGen
TOPMed
CA7601430
rs756244410
358 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7601432
rs754109761
360 V>M No ClinGen
ExAC
gnomAD
rs1454926520
CA392724186
361 Q>* No ClinGen
TOPMed
gnomAD
rs1454926520
CA392724184
361 Q>E No ClinGen
TOPMed
gnomAD
rs757488085
CA7601433
362 E>K No ClinGen
ExAC
gnomAD
rs912011979
CA272046675
363 E>K No ClinGen
gnomAD
CA7601434
rs779210852
364 N>D No ClinGen
ExAC
gnomAD
CA392724235
rs745599979
364 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA7601436
rs368633373
365 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1005141365
CA272046731
366 P>S No ClinGen
TOPMed
CA7601437
rs779823983
367 V>M No ClinGen
ExAC
gnomAD
rs148264247
CA7601438
370 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7601462
rs777272720
375 Y>* No ClinGen
ExAC
gnomAD
rs1246443177
CA392725308
375 Y>C No ClinGen
TOPMed
rs749030611
CA7601463
376 V>D No ClinGen
ExAC
gnomAD
CA392725404
rs1216816022
COSM963667
382 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs772322623
CA7601464
382 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1282311705
CA392725453
386 T>R No ClinGen
TOPMed
rs1026377051
CA272056344
387 P>R No ClinGen
TOPMed
gnomAD
rs775930879
CA7601465
387 P>S No ClinGen
ExAC
gnomAD
rs1352977343
CA392725463
388 Y>N No ClinGen
TOPMed
CA392725480
rs1238624473
389 V>E No ClinGen
TOPMed
gnomAD
CA7601467
rs566925626
COSM288441
389 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA7601468
rs777310393
390 D>H No ClinGen
ExAC
gnomAD
rs761766710
CA7601469
391 N>D No ClinGen
ExAC
gnomAD
CA392725503
rs1347758143
391 N>I No ClinGen
gnomAD
CA392725515
rs1457182235
392 S>F No ClinGen
gnomAD
rs765406619
CA7601470
394 K>N No ClinGen
ExAC
gnomAD
CA7601471
rs750598000
395 W>L No ClinGen
ExAC
gnomAD
CA392725559
rs1365248997
396 A>V No ClinGen
TOPMed
rs1287723878
CA392725613
402 S>C No ClinGen
TOPMed
gnomAD
rs766589039
CA7601473
403 T>A No ClinGen
ExAC
gnomAD
rs1230115734
CA392725631
404 V>A No ClinGen
gnomAD
rs1346572766
CA392725680
409 K>R No ClinGen
TOPMed
CA392725724
rs1156366533
412 N>S No ClinGen
TOPMed
rs754787506
CA7601475
413 A>V No ClinGen
ExAC
gnomAD
rs200127857
CA7601476
COSM216347
414 M>I pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA392725749
rs1418566096
414 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs752732965
CA7601477
415 L>F No ClinGen
ExAC
gnomAD
rs1482304544
CA392725780
416 Y>S No ClinGen
gnomAD
CA7601478
rs755570176
417 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs966030279
CA272056425
417 G>D No ClinGen
gnomAD
rs748753368
CA7601480
418 Y>H No ClinGen
ExAC
gnomAD
rs770651278
CA7601481
CA392725836
421 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs778731900
CA7601482
423 F>L No ClinGen
ExAC
gnomAD
rs1372171353
CA392725856
423 F>L No ClinGen
gnomAD
CA392725908
rs1307276532
426 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7601483
rs747339663
427 N>D No ClinGen
ExAC
gnomAD
CA392725928
rs1216086833
429 N>S No ClinGen
TOPMed
TCGA novel 430 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777253275
CA7601485
433 G>E No ClinGen
ExAC
gnomAD
CA392725959
rs1215356924
434 Y>C No ClinGen
gnomAD
CA7601488
rs773272640
438 E>D No ClinGen
ExAC
gnomAD
CA7601489
rs144012110
439 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA392726000
rs1566994557
440 M>T No ClinGen
Ensembl
CA392725997
rs1310337345
440 M>V No ClinGen
TOPMed
rs766535919
CA7601490
441 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs766535919
CA392726006
441 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 442 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7601491
rs751809066
443 M>L No ClinGen
ExAC
CA392726022
rs1281616840
443 M>T No ClinGen
gnomAD
rs759306733
CA7601492
444 W>* No ClinGen
ExAC
gnomAD
CA392726058
rs1208693558
448 P>L No ClinGen
gnomAD
CA392726070
rs1214927582
450 T>K No ClinGen
TOPMed
CA392726078
rs1482676416
451 E>D No ClinGen
gnomAD
rs767361464
CA7601493
451 E>K No ClinGen
ExAC
gnomAD
CA392726087
rs1188799070
452 M>I No ClinGen
gnomAD
rs1033243434
CA272056539
452 M>V No ClinGen
Ensembl
rs1363719580
CA392726107
455 D>G No ClinGen
TOPMed
rs1391635467
CA392726117
456 K>N No ClinGen
gnomAD
rs1161209543
CA392726125
457 E>D No ClinGen
gnomAD
rs1295977948
CA392726130
458 G>D No ClinGen
TOPMed
CA7601495
rs756017281
461 A>T No ClinGen
ExAC
gnomAD
CA392726155
rs1375553290
462 M>V No ClinGen
TOPMed
rs1314145412
CA392726168
463 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA392726180
rs1416066398
465 G>C No ClinGen
gnomAD
CA392726181
rs753340432
465 G>D No ClinGen
ExAC
gnomAD
CA7601497
rs753340432
465 G>V No ClinGen
ExAC
gnomAD
CA7601498
rs756859717
466 V>L No ClinGen
ExAC
gnomAD
rs1465023956
CA392726189
467 V>M No ClinGen
TOPMed
VAR_018299
rs2729835
CA7601499
469 R>K does not affect serine protease activity; shows reduced tumor suppressor activity; shows reduced ability to down-regulate phosphatidylethanolamine (PtdEtn) levels [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA392726204
rs2729835
469 R>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2729835
CA392726205
469 R>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1171636891
CA392726215
470 K>N No ClinGen
TOPMed
rs1363318456
CA392726212
470 K>R No ClinGen
gnomAD
CA7601501
rs746733829
472 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1217965488
CA392726232
473 Y>F No ClinGen
gnomAD
rs1278619260
CA392726238
474 G>R No ClinGen
gnomAD
CA392726237
rs1278619260
474 G>S No ClinGen
gnomAD
rs1441269797
CA392726242
474 G>V No ClinGen
gnomAD
CA7601503
rs556545187
475 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1463291764
CA392726253
476 C>F No ClinGen
gnomAD
CA392726249
rs1259751471
476 C>R No ClinGen
TOPMed
CA7601506
rs773611217
479 Q>R No ClinGen
ExAC
gnomAD
rs148995972
CA7601509
480 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7601508
rs771050457
480 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs565191477
CA272056609
483 A>T No ClinGen
TOPMed
gnomAD
CA392726301
rs1276022933
483 A>V No ClinGen
TOPMed
CA7601512
rs767735522
484 S>P No ClinGen
ExAC
gnomAD
rs1213945081
CA392726325
487 G>A No ClinGen
gnomAD
TCGA novel 488 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7601513
rs200480788
489 A>T No ClinGen
ExAC
gnomAD
CA7601515
rs764053537
491 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA7601514
rs367940459
491 G>R No ClinGen
ESP
ExAC
gnomAD
rs756804133
CA7601517
492 A>D No ClinGen
ExAC
gnomAD
rs753760490
CA392726349
492 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7601516
rs753760490
492 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA392726355
rs1330450786
493 S>N No ClinGen
gnomAD
rs369446060
CA7601520
493 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 496 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1326516034
CA392726441
COSM257261
502 E>* large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1207694084
CA392726449
502 E>D No ClinGen
TOPMed
gnomAD
rs1290225341
CA392726452
503 L>M No ClinGen
gnomAD
CA392726468
rs1463939302
504 D>G No ClinGen
TOPMed
rs372475477
CA7601524
504 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7601527
rs770997369
506 E>D No ClinGen
ExAC
gnomAD
rs778310160
CA7601526
506 E>K No ClinGen
ExAC
gnomAD
CA7601525
rs778310160
506 E>Q No ClinGen
ExAC
gnomAD
CA7601528
rs377555615
507 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs377555615
CA392726496
507 T>P No ClinGen
1000Genomes
ExAC
gnomAD
CA392726512
rs1566994689
508 I>T No ClinGen
Ensembl
CA392726506
rs1184322607
508 I>V No ClinGen
gnomAD
CA392726554
rs1163985910
511 K>N No ClinGen
gnomAD
CA392726548
rs1456842586
511 K>T No ClinGen
gnomAD
CA272056674
rs1040866866
512 V>I No ClinGen
TOPMed
gnomAD
rs1040866866
CA392726557
512 V>L No ClinGen
TOPMed
gnomAD
rs1566994705
CA392726569
513 P>S No ClinGen
Ensembl
rs1566994708 514 P>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA7601532
rs760488771
514 P>Q No ClinGen
ExAC
gnomAD
rs775607481
CA7601531
514 P>T No ClinGen
ExAC
gnomAD
CA392726623
rs1185596927
519 V>I No ClinGen
TOPMed
CA392726626
rs1185596927
519 V>L No ClinGen
TOPMed
rs1287065271
CA392726656
522 I>V No ClinGen
TOPMed
gnomAD
rs761908040
CA7601535
526 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1358070384
CA392726720
527 S>F No ClinGen
gnomAD
rs749890606
CA7601538
530 L>F No ClinGen
ExAC
gnomAD
rs1483294303
CA392726796
532 S>C No ClinGen
gnomAD
rs1483294303
CA392726799
532 S>G No ClinGen
gnomAD
CA272056776
rs991619952
535 L>V No ClinGen
TOPMed
rs199868189
CA272056782
543 K>T No ClinGen
Ensembl
rs1370376699
CA392727059
545 R>I No ClinGen
gnomAD
CA392727067
rs1471914250
545 R>S No ClinGen
gnomAD
CA392727081
rs1242081508
546 S>* No ClinGen
TOPMed
CA7601541
rs766012269
547 D>G No ClinGen
ExAC
gnomAD
CA272056794
rs1024403619
547 D>N No ClinGen
TOPMed

No associated diseases with P83111

2 regional properties for P83111

Type Name Position InterPro Accession
domain Beta-lactamase-related 116 - 233 IPR001466-1
domain Beta-lactamase-related 302 - 524 IPR001466-2

Functions

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

2 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

2 GO annotations of molecular function

Name Definition
identical protein binding Binding to an identical protein or proteins.
peptidase activity Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid.

3 GO annotations of biological process

Name Definition
lipid metabolic process The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9EP89 Lactb Serine beta-lactamase-like protein LACTB, mitochondrial Mus musculus (Mouse) PR
10 20 30 40 50 60
MYRLMSAVTA RAAAPGGLAS SCGRRGVHQR AGLPPLGHGW VGGLGLGLGL ALGVKLAGGL
70 80 90 100 110 120
RGAAPAQSPA APDPEASPLA EPPQEQSLAP WSPQTPAPPC SRCFARAIES SRDLLHRIKD
130 140 150 160 170 180
EVGAPGIVVG VSVDGKEVWS EGLGYADVEN RVPCKPETVM RIASISKSLT MVALAKLWEA
190 200 210 220 230 240
GKLDLDIPVQ HYVPEFPEKE YEGEKVSVTT RLLISHLSGI RHYEKDIKKV KEEKAYKALK
250 260 270 280 290 300
MMKENVAFEQ EKEGKSNEKN DFTKFKTEQE NEAKCRNSKP GKKKNDFEQG ELYLREKFEN
310 320 330 340 350 360
SIESLRLFKN DPLFFKPGSQ FLYSTFGYTL LAAIVERASG CKYLDYMQKI FHDLDMLTTV
370 380 390 400 410 420
QEENEPVIYN RARFYVYNKK KRLVNTPYVD NSYKWAGGGF LSTVGDLLKF GNAMLYGYQV
430 440 450 460 470 480
GLFKNSNENL LPGYLKPETM VMMWTPVPNT EMSWDKEGKY AMAWGVVERK QTYGSCRKQR
490 500 510 520 530 540
HYASHTGGAV GASSVLLVLP EELDTETINN KVPPRGIIVS IICNMQSVGL NSTALKIALE
FDKDRSD