Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for P49593

Entry ID Method Resolution Chain Position Source
AF-P49593-F1 Predicted AlphaFoldDB

360 variants for P49593

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10125231
rs770042220
2 S>F No ClinGen
ExAC
gnomAD
rs746224746
CA10125230
3 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA10125229
rs781470132
4 G>E No ClinGen
ExAC
gnomAD
rs565255163
CA10125227
5 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1601792827
CA410833890
6 P>S No ClinGen
Ensembl
rs144742048
CA322348762
7 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144742048
CA10125226
7 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10125225
rs545350752
8 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA10125224
rs752308850
9 S>R No ClinGen
ExAC
CA410833864
rs1569132342
10 S>N No ClinGen
Ensembl
CA10125223
rs140871633
10 S>R No ClinGen
ESP
ExAC
gnomAD
rs1357070275
CA410833861
10 S>R No ClinGen
gnomAD
rs753626964
CA10125221
12 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA10125222
rs762076150
12 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1601792798
CA410833842
13 A>G No ClinGen
Ensembl
CA10125219
rs760617515
14 S>G No ClinGen
ExAC
gnomAD
CA410833838
rs139013152
14 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1362028759
CA410833835
14 S>R No ClinGen
gnomAD
rs139013152
CA10125218
14 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10125217
rs142002832
15 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142002832
CA322348707
15 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762988140
CA10125216
16 A>T No ClinGen
ExAC
gnomAD
CA410833813
rs1309828256
18 E>A No ClinGen
TOPMed
CA322348691
rs765430160
18 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs148178922
CA10125213
19 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 21 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10125210
rs747505604
25 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs772748986
CA10125208
26 L>I No ClinGen
ExAC
gnomAD
rs747660424
CA10125207
26 L>R No ClinGen
ExAC
gnomAD
CA322348680
rs983865755
27 L>R No ClinGen
TOPMed
rs1292700838
CA410833742
30 F>L No ClinGen
gnomAD
TCGA novel 32 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222963672
CA410833722
33 L>V No ClinGen
gnomAD
rs542661043
CA322348672
39 P>S No ClinGen
gnomAD
CA322348670
rs200899033
41 P>L No ClinGen
Ensembl
CA410833661
rs1301040765
42 W>C No ClinGen
TOPMed
gnomAD
rs1372867749
CA410833667
42 W>R No ClinGen
gnomAD
rs1226578947
CA410833655
43 K>R No ClinGen
gnomAD
rs778576584
CA10125206
44 A>G No ClinGen
ExAC
gnomAD
rs754608593
CA10125205
45 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1279581572
CA410833645
45 P>S No ClinGen
TOPMed
gnomAD
CA10125203
rs145130250
46 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1303308142
CA410833635
47 T>A No ClinGen
gnomAD
rs142942577
CA10125202
47 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA410833623
rs1167894723
49 L>F No ClinGen
gnomAD
CA410833616
rs1462916965
50 S>I No ClinGen
gnomAD
CA410833583
rs1601792657
54 V>G No ClinGen
Ensembl
CA10125200
rs142387650
55 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA410833568
rs1227120857
57 E>K No ClinGen
TOPMed
rs1269958189
CA410833528
63 M>T No ClinGen
gnomAD
CA322348560
rs376410604
63 M>V No ClinGen
TOPMed
gnomAD
CA10125196
rs752717352
69 R>T No ClinGen
ExAC
rs1045152874
CA322342133
71 A>V No ClinGen
Ensembl
CA322342132
rs554795895
72 P>L No ClinGen
1000Genomes
TOPMed
gnomAD
CA10125184
rs376022548
77 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs954965582
CA322342129
78 A>T No ClinGen
TOPMed
gnomAD
rs1384527715
CA410833001
78 A>V No ClinGen
gnomAD
CA410832986
rs1381911837
80 A>T No ClinGen
gnomAD
CA10125181
rs745634939
81 H>R No ClinGen
ExAC
gnomAD
rs1211622826
CA410832944
82 E>D No ClinGen
gnomAD
rs200384965
CA10125179
82 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA410832915
rs1258495309
85 S>A No ClinGen
TOPMed
rs1569130406
CA410832902
COSM182771
86 Q>* large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs765252377
CA10125177
86 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs753994387
CA10125175
89 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1601788410
CA410832822
92 L>F No ClinGen
Ensembl
rs761018228
CA10125173
94 E>K Variant assessed as Somatic; 6.039e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10125172
rs137892679
96 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA410832761
rs1477140753
96 R>S No ClinGen
TOPMed
rs768022793
CA10125171
97 K>R No ClinGen
ExAC
gnomAD
CA410832737
rs1325915016
98 L>F No ClinGen
gnomAD
CA410832733
rs1319282784
99 P>L No ClinGen
TOPMed
gnomAD
CA410832728
rs1363899842
100 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1479046327
CA410832723
101 E>K No ClinGen
TOPMed
rs774973812
CA10125169
102 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs370601228
CA322342098
103 E>K No ClinGen
TOPMed
rs1020204015
CA322342087
104 E>K No ClinGen
gnomAD
CA410832689
rs1474170519
105 E>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs138566201
CA10125165
107 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1297215552
CA410832677
107 E>K No ClinGen
gnomAD
rs769270846
CA10125159
109 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs769270846
CA322342070
109 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs780926684
CA10125157
111 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1322687888
CA410832635
112 E>D No ClinGen
gnomAD
CA10125156
rs770735567
113 E>D No ClinGen
ExAC
TOPMed
rs746856265
CA10125154
116 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA410832611
rs1292710678
116 P>S No ClinGen
TOPMed
gnomAD
CA10125153
rs368293453
117 V>E No ClinGen
ESP
ExAC
gnomAD
CA322342050
rs924700437
117 V>M No ClinGen
TOPMed
gnomAD
rs1343887846
CA410832599
118 T>I No ClinGen
gnomAD
TCGA novel 119 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756191806
CA10125132
120 L>P No ClinGen
ExAC
gnomAD
TCGA novel 123 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA322338959
rs530107747
125 L>V No ClinGen
1000Genomes
gnomAD
rs1264854449
CA410832166
126 A>V No ClinGen
gnomAD
rs750567170
CA410832164
127 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA10125131
rs750567170
127 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA410832153
rs1323390628
128 S>N No ClinGen
gnomAD
CA410832144
rs1292853417
129 F>L No ClinGen
gnomAD
CA410832134
rs1340751283
131 N>H No ClinGen
TOPMed
gnomAD
rs1601783801
CA410832131
131 N>T No ClinGen
Ensembl
VAR_050620
rs9610645
CA10125129
132 R>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs751912661
CA10125128
132 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs918663158
CA322338951
133 L>F No ClinGen
Ensembl
rs1390443465
CA410832106
135 E>* No ClinGen
gnomAD
rs1164378866
CA410832102
135 E>D No ClinGen
TOPMed
gnomAD
rs1390443465
CA410832108
135 E>K No ClinGen
gnomAD
CA410832094
rs550518307
137 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1682134
CA10125127
rs550518307
137 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10125126
rs377163282
138 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372671040
CA10125125
140 W>* No ClinGen
ESP
ExAC
gnomAD
CA410832059
rs1601783751
142 K>E No ClinGen
Ensembl
rs530815427
CA322338944
143 Q>L No ClinGen
1000Genomes
gnomAD
CA410832042
rs1601783741
144 V>G No ClinGen
Ensembl
rs1165941679
CA410832044
144 V>L No ClinGen
TOPMed
gnomAD
CA410832035
rs1197521905
145 P>R No ClinGen
gnomAD
CA410832016
rs1266445872
148 A>G No ClinGen
gnomAD
CA10125123
rs759016459
149 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765713884
CA10125124
149 R>W No ClinGen
ExAC
gnomAD
CA410832011
rs1249477981
150 A>T No ClinGen
gnomAD
rs971123078
CA322338916
150 A>V No ClinGen
TOPMed
rs760336731
CA410831992
153 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10125119
rs564984837
153 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10125120
rs760336731
153 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 155 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747940041
CA10125117
157 V>G No ClinGen
ExAC
gnomAD
rs1324646912
CA410831967
157 V>I No ClinGen
gnomAD
CA410831958
rs1394975490
158 S>C No ClinGen
gnomAD
CA10125116
rs774309318
161 A>T No ClinGen
ExAC
CA410831930
rs1466261892
162 I>M No ClinGen
TOPMed
gnomAD
CA410831932
rs1601783682
162 I>T No ClinGen
Ensembl
CA410831928
rs1174317216
163 R>Q No ClinGen
TOPMed
gnomAD
rs745928402
CA10125114
163 R>W No ClinGen
ExAC
gnomAD
TCGA novel 165 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569128633
CA410831909
166 R>C No ClinGen
Ensembl
CA10125113
rs781432214
166 R>H No ClinGen
ExAC
gnomAD
CA10125112
rs757487890
167 R>C No ClinGen
ExAC
gnomAD
rs1199309249
CA410831902
167 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1199309249
CA410831903
167 R>P No ClinGen
TOPMed
gnomAD
rs747264218
CA10125111
168 K>R No ClinGen
ExAC
gnomAD
CA410831888
rs1236341697
169 M>I No ClinGen
gnomAD
CA410831876
rs1457851790
171 D>N No ClinGen
gnomAD
rs577103268
CA10125109
172 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA410831869
rs1201182279
172 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10125107
rs765770907
173 H>D No ClinGen
ExAC
gnomAD
rs1309237568
CA410831855
174 V>L No ClinGen
TOPMed
gnomAD
rs1309237568
CA410831857
174 V>M No ClinGen
TOPMed
gnomAD
CA410831847
rs1448208975
175 S>C No ClinGen
gnomAD
rs1334804390
CA410831835
177 P>R No ClinGen
gnomAD
rs1403259806
CA410831830
178 S>C No ClinGen
gnomAD
CA410831832
rs1413911365
178 S>P No ClinGen
TOPMed
gnomAD
rs1174519092
CA410831826
179 F>L No ClinGen
gnomAD
TCGA novel 179 F>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA322338836
rs560067214
183 F>C No ClinGen
1000Genomes
CA10125105
rs753291754
184 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs147032523
CA10125082
187 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1340129426
CA410831670
188 P>S No ClinGen
gnomAD
rs1249200143
CA410831625
190 N>H No ClinGen
TOPMed
rs1055314607
CA322338334
191 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs936716075
CA322338328
191 R>H No ClinGen
Ensembl
rs371052460
CA10125081
193 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762934268
CA10125080
194 F>I No ClinGen
ExAC
gnomAD
CA410831568
rs762934268
194 F>L No ClinGen
ExAC
gnomAD
CA10125079
rs775546838
195 A>T No ClinGen
ExAC
gnomAD
rs925362483
CA322338319
198 D>V No ClinGen
Ensembl
rs760806504
CA10125077
201 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10125076
rs553631089
203 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10125075
rs772282135
204 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 205 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA410831467
rs1245372501
206 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1452710879
CA410831460
207 R>K No ClinGen
gnomAD
rs1292571037
CA410831452
207 R>S No ClinGen
gnomAD
CA410831436
rs1317363863
COSM379685
209 A>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA410831434
rs1317363863
209 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA10125072
rs768983378
210 A>T No ClinGen
ExAC
gnomAD
CA410831413
rs1343832171
211 V>F No ClinGen
gnomAD
TCGA novel 213 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369868805
CA410831386
213 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369868805
CA10125070
213 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756668925
CA10125069
215 T>S No ClinGen
ExAC
gnomAD
CA410831348
rs1463649020
216 N>H No ClinGen
gnomAD
CA10125068
rs375506131
216 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1371480209
CA410831329
217 A>T No ClinGen
TOPMed
rs373955365
CA10125065
219 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10125064
rs763888472
219 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 220 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762810315
CA10125063
224 P>L No ClinGen
ExAC
gnomAD
rs1205135195
CA410831212
226 D>H No ClinGen
gnomAD
CA410831189
rs1457403907
228 E>K No ClinGen
TOPMed
gnomAD
CA10125060
rs765253739
229 G>R No ClinGen
ExAC
gnomAD
CA410831164
rs1200553660
229 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1310669846
CA410831161
230 A>T No ClinGen
gnomAD
rs958510014
CA322338243
230 A>V No ClinGen
TOPMed
rs773278865
CA10125058
234 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs773278865
CA410831103
234 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1305585180
CA410831087
235 F>L No ClinGen
gnomAD
CA10125057
rs772079351
235 F>S No ClinGen
ExAC
rs774522572
CA10125055
236 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762050247
CA10125056
236 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10125054
rs144678508
237 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10125053
rs140855421
237 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1357141521
CA410831065
238 T>A No ClinGen
gnomAD
CA410831042
rs1325164458
239 D>E No ClinGen
TOPMed
CA10125052
rs780407448
239 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA10125051
rs537126643
240 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
rs746390865
CA10125050
241 M>L No ClinGen
ExAC
gnomAD
rs780703480
CA10125049
244 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA410830983
rs780703480
244 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1239249768
CA410830954
248 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1239249768
CA410830955
248 R>G No ClinGen
TOPMed
gnomAD
rs993840823
CA322338225
248 R>Q No ClinGen
TOPMed
gnomAD
rs754710375
CA10125024
250 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10125025
rs778725091
250 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10125023
rs753730476
252 Q>E No ClinGen
ExAC
gnomAD
CA10125022
rs766208962
252 Q>H No ClinGen
ExAC
gnomAD
CA10125020
rs751568857
254 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA10125019
rs764188200
255 T>A No ClinGen
ExAC
gnomAD
CA10125015
rs759814828
258 V>A No ClinGen
ExAC
gnomAD
rs759814828
CA10125016
258 V>G No ClinGen
ExAC
gnomAD
rs775666012
CA10125017
258 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10125013
rs61730100
260 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867121892
CA322336894
261 L>F No ClinGen
Ensembl
rs759966864
CA10125010
262 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1206624886
CA410830742
264 G>E No ClinGen
gnomAD
CA410830734
rs1487472647
265 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs748974534
CA10125006
267 L>V No ClinGen
ExAC
gnomAD
CA10125005
rs779901052
269 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs750380798
COSM1415089
CA10125003
270 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA410830690
rs1181147575
273 G>R No ClinGen
TOPMed
CA410830684
rs1294621028
274 D>N No ClinGen
gnomAD
TCGA novel 276 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 276 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1601781256
CA410830658
277 V>G No ClinGen
Ensembl
rs139401156
CA10125000
277 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 278 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10124999
rs376795506
278 I>V No ClinGen
ESP
ExAC
gnomAD
rs759818451
CA10124998
281 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754086706
CA10124997
282 Q>K No ClinGen
ExAC
gnomAD
CA410830541
rs1601781233
286 V>G No ClinGen
Ensembl
rs1191673557
CA410830491
290 E>K No ClinGen
gnomAD
CA410830457
rs1469732067
292 H>R No ClinGen
gnomAD
CA410830436
rs1255629330
293 R>S No ClinGen
gnomAD
COSM32999
CA410830411
VAR_036520
rs1318162463
296 R>Q large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] No ClinGen
cosmic curated
UniProt
TOPMed
dbSNP
gnomAD
CA10124993
rs772750930
296 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs769502731
CA10124970
301 A>E No ClinGen
ExAC
gnomAD
rs1447672877
CA410829994
301 A>T No ClinGen
TOPMed
gnomAD
rs1395693423
CA410829983
VAR_086701
302 R>C Variant assessed as Somatic; 0.0 impact. found in a patient with sclerosing cholangitis short stature hypothyroidism and abnormal tongue pigmentation; unknown pathological significance [NCI-TCGA, UniProt] No ClinGen
UniProt
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA322332633
rs549205418
302 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA410829958
COSM1307993
rs1174030342
304 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA410829867
rs1601777465
312 H>D No ClinGen
Ensembl
CA10124967
rs374278330
313 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1274845384
CA410829842
315 C>G No ClinGen
TOPMed
CA322332612
rs981011575
316 W>* No ClinGen
TOPMed
rs746999477
CA10124966
319 N>S No ClinGen
ExAC
gnomAD
rs573839921
CA10124964
320 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10124963
rs749371622
321 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA10124960
rs750746998
322 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 323 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755692988
CA322332557
324 V>I No ClinGen
TOPMed
gnomAD
CA322332539
rs4050961
325 S>C No ClinGen
Ensembl
rs752082994
CA10124957
329 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA410829005
rs1335371010
330 D>H No ClinGen
TOPMed
CA10124898
rs747218234
330 D>V No ClinGen
ExAC
gnomAD
CA10124897
rs778158817
331 V>A No ClinGen
ExAC
gnomAD
CA410828986
rs1206856529
332 F>L No ClinGen
gnomAD
CA10124895
rs779376709
335 P>A No ClinGen
ExAC
gnomAD
CA10124894
rs779376709
335 P>T No ClinGen
ExAC
gnomAD
rs755542293
CA10124893
336 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA10124891
rs779457408
337 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs552638029
CA10124890
338 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1601775758
CA410828937
339 G>A No ClinGen
Ensembl
COSM3842261
rs1443956182
CA410828900
342 D>N Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA410828894
rs1357017980
342 D>V No ClinGen
gnomAD
rs199861570
CA10124886
346 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10124887
rs114630807
346 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764057762
CA10124885
347 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA10124883
rs144940091
COSM1565996
349 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760847369
CA10124881
350 G>V No ClinGen
ExAC
gnomAD
rs369233514
CA10124880
351 S>C No ClinGen
ESP
ExAC
gnomAD
rs369233514
CA410828785
351 S>F No ClinGen
ESP
ExAC
gnomAD
CA410828770
rs1282432275
352 E>D No ClinGen
TOPMed
gnomAD
rs1485861558
CA410828780
352 E>K No ClinGen
gnomAD
rs1316221957
CA410828753
353 D>E No ClinGen
TOPMed
gnomAD
CA410828766
rs1237907416
353 D>N No ClinGen
gnomAD
CA322330838
rs906498869
357 L>F No ClinGen
TOPMed
CA410828703
rs1569124947
358 A>P No ClinGen
Ensembl
TCGA novel 362 F>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1397879871
CA410828652
363 F>S No ClinGen
TOPMed
gnomAD
rs774698640
CA10124877
365 V>I No ClinGen
ExAC
gnomAD
rs749829790
CA10124875
366 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1296697502
CA410828622
368 H>Y No ClinGen
gnomAD
rs1324283360
CA410828615
369 Q>E No ClinGen
TOPMed
CA10124872
rs745443715
372 V>A No ClinGen
ExAC
gnomAD
rs1422119262
CA410828584
373 G>V No ClinGen
gnomAD
rs143120845
CA10124871
376 Q>E No ClinGen
ESP
ExAC
gnomAD
CA410828563
rs1461683083
377 S>C No ClinGen
gnomAD
rs377507736
CA10124870
378 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1476285320
CA410828529
382 Q>R No ClinGen
gnomAD
rs1259380102
CA410828520
383 Q>R No ClinGen
gnomAD
rs149519614
CA322330784
384 G>S No ClinGen
ESP
TOPMed
rs1177548949
CA410828514
384 G>V No ClinGen
TOPMed
rs1214110514
CA410828510
385 S>G No ClinGen
gnomAD
CA10124867
rs758369684
386 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs764002847
CA10124868
386 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10124864
rs541801402
388 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs149886262
CA10124863
388 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA410828489
rs1276701681
389 V>I No ClinGen
gnomAD
CA10124861
rs373611791
390 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10124859
rs147873434
391 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1299120264
CA410828467
392 E>G No ClinGen
TOPMed
rs146460819
CA322330692
395 A>S No ClinGen
ESP
TOPMed
gnomAD
CA410828444
rs770401420
396 A>G No ClinGen
ExAC
gnomAD
rs775850661
CA10124857
396 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs770401420
CA10124856
396 A>V No ClinGen
ExAC
gnomAD
CA10124854
rs201217825
398 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10124855
rs745310134
398 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746689848
CA10124852
399 E>Q No ClinGen
ExAC
gnomAD
rs200753279
CA322330639
400 R>Q No ClinGen
1000Genomes
gnomAD
CA410828426
rs1213701733
400 R>W No ClinGen
gnomAD
rs1255744164
CA410828420
401 G>D No ClinGen
gnomAD
rs777608532
CA10124851
403 H>P No ClinGen
ExAC
gnomAD
rs369252135
CA10124849
404 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1003542794
CA410828378
407 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA322330615
rs1003542794
407 T>R No ClinGen
TOPMed
rs761925185
CA10124842
409 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs559659083
CA322330592
410 V>A No ClinGen
TOPMed
gnomAD
CA410828355
rs1373467397
411 V>D No ClinGen
gnomAD
rs372015251
CA322330590
411 V>I No ClinGen
gnomAD
CA322330588
rs1036587806
413 L>F No ClinGen
Ensembl
CA410828330
rs1321180760
415 D>G No ClinGen
gnomAD
CA10124840
rs764361815
415 D>N No ClinGen
ExAC
gnomAD
VAR_036521 417 Q>K a breast cancer sample; somatic mutation [UniProt] No UniProt
VAR_024580
rs2070507
CA10124839
420 L>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10124838
rs775929790
421 E>* No ClinGen
ExAC
CA410828291
rs1469398160
421 E>G No ClinGen
gnomAD
rs1194903845
COSM1484098
CA410828279
423 G>R Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1339601174
CA410828264
425 Q>P No ClinGen
TOPMed
gnomAD
CA10124835
CA10124836
rs776240342
428 G>R No ClinGen
ExAC
gnomAD
rs929230830
CA322330551
428 G>V No ClinGen
TOPMed
CA10124833
rs746565007
429 D>A No ClinGen
ExAC
gnomAD
rs1236655160
CA410828238
429 D>E No ClinGen
gnomAD
rs770532927
CA10124834
429 D>N No ClinGen
ExAC
gnomAD
CA410828239
rs746565007
429 D>V No ClinGen
ExAC
gnomAD
rs374898094
CA10124832
430 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10124831
rs771821959
431 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1438820084
CA410828221
432 A>E No ClinGen
TOPMed
rs1398840318
CA410828207
434 G>E No ClinGen
gnomAD
rs139119123
CA10124828
437 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10124827
rs754818649
438 D>E No ClinGen
ExAC
gnomAD
CA10124826
rs753786937
439 L>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 440 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1455502051
CA410828156
442 S>C No ClinGen
gnomAD
CA410828154
rs1361583215
442 S>T No ClinGen
gnomAD
CA410828144
rs1180388157
444 P>T No ClinGen
gnomAD
CA410828138
rs1215102478
445 E>Q No ClinGen
TOPMed
rs780020474
CA10124825
COSM1327319
448 T>I ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10124823
rs74525416
449 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA410828101
rs1441189538
450 A>D No ClinGen
gnomAD
CA10124822
rs764235417
451 P>A No ClinGen
ExAC
gnomAD
CA10124820
rs148553069
454 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD

1 associated diseases with P49593

Without disease ID

2 regional properties for P49593

Type Name Position InterPro Accession
binding_site PPM-type phosphatase, divalent cation binding 193 - 201 IPR000222
domain PPM-type phosphatase-like domain 144 - 413 IPR001932

Functions

Description
EC Number 3.1.3.16 Phosphoric monoester hydrolases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 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.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

5 GO annotations of molecular function

Name Definition
calmodulin-dependent protein phosphatase activity Catalysis of the reaction: protein serine/threonine phosphate + H2O = protein serine/threonine + phosphate, dependent on the presence of calcium-bound calmodulin.
metal ion binding Binding to a metal ion.
myosin phosphatase activity Catalysis of the reaction: phosphomyosin + H2O = myosin + phosphate.
protein serine/threonine phosphatase activity Catalysis of the reaction: protein serine phosphate + H2O = protein serine + phosphate, and protein threonine phosphate + H2O = protein threonine + phosphate.
protein tyrosine/serine/threonine phosphatase activity Catalysis of the reactions: protein serine + H2O = protein serine + phosphate; protein threonine phosphate + H2O = protein threonine + phosphate; and protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

21 GO annotations of biological process

Name Definition
cellular response to xenobiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
intrinsic apoptotic signaling pathway The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
negative regulation of cell-cell adhesion mediated by cadherin Any process that stops, prevents, or reduces the frequency, rate or extent of cell-cell adhesion mediated by cadherin.
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of peptidyl-serine phosphorylation Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-serine.
negative regulation of protein kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity.
negative regulation of protein kinase activity by regulation of protein phosphorylation The stopping, prevention, or reduction in frequency, rate or extent of protein kinase activity as a result of regulating the phosphorylation status of that protein kinase.
negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
peptidyl-serine dephosphorylation The removal of phosphoric residues from peptidyl-O-phospho-L-serine to form peptidyl-serine.
peptidyl-threonine dephosphorylation The removal of phosphoric residues from peptidyl-O-phospho-L-threonine to form peptidyl-threonine.
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of cell-substrate adhesion Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules.
positive regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.
positive regulation of epithelial cell migration Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of focal adhesion assembly Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.
positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of growth Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism.
positive regulation of stress fiber assembly Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.
regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location.

30 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A5PJZ2 PPM1L Protein phosphatase 1L Bos taurus (Bovine) PR
O15297 PPM1D Protein phosphatase 1D Homo sapiens (Human) PR
Q9ULR3 PPM1H Protein phosphatase 1H Homo sapiens (Human) PR
Q5SGD2 PPM1L Protein phosphatase 1L Homo sapiens (Human) PR
Q8BHN0 Ppm1l Protein phosphatase 1L Mus musculus (Mouse) PR
Q80TL0 Ppm1e Protein phosphatase 1E Mus musculus (Mouse) PR
Q8CGA0 Ppm1f Protein phosphatase 1F Mus musculus (Mouse) PR
Q5JKN1 Os01g0552300 Probable protein phosphatase 2C 5 Oryza sativa subsp japonica (Rice) PR
Q0JLP9 PP2C06 Probable protein phosphatase 2C 6 Oryza sativa subsp japonica (Rice) PR
Q5SN75 Os01g0656200 Probable protein phosphatase 2C 8 Oryza sativa subsp japonica (Rice) PR
Q6K5I0 Os02g0600000 Probable protein phosphatase 2C 20 Oryza sativa subsp japonica (Rice) PR
Q7XW27 Os04g0321800 Probable protein phosphatase 2C 38 Oryza sativa subsp japonica (Rice) PR
Q6L482 Os05g0358500 Probable protein phosphatase 2C 48 Oryza sativa subsp japonica (Rice) PR
Q6L4R7 PP2C53 Protein phosphatase 2C 53 Oryza sativa subsp japonica (Rice) PR
Q6ZKL8 Os08g0500300 Probable protein phosphatase 2C 66 Oryza sativa subsp japonica (Rice) PR
Q9LNP9 HAB2 Protein phosphatase 2C 7 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LMT1 At1g18030 Probable protein phosphatase 2C 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q9CAJ0 HAB1 Protein phosphatase 2C 16 Arabidopsis thaliana (Mouse-ear cress) PR
O81716 PPC4-2 Probable protein phosphatase 2C 21 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LRZ4 At3g16800 Probable protein phosphatase 2C 41 Arabidopsis thaliana (Mouse-ear cress) PR
Q3EAZ3 At3g27140 Putative protein phosphatase 2C-like protein 45 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SD02 At3g51470 Probable protein phosphatase 2C 47 Arabidopsis thaliana (Mouse-ear cress) PR
Q8GY60 At4g03415 Probable protein phosphatase 2C 52 Arabidopsis thaliana (Mouse-ear cress) PR
P49599 PPH1 Protein phosphatase 2C 57 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FG61 At5g36250 Probable protein phosphatase 2C 74 Arabidopsis thaliana (Mouse-ear cress) PR
O04719 ABI2 Protein phosphatase 2C 77 Arabidopsis thaliana (Mouse-ear cress) PR
Q9FIF5 SAG113 Probable protein phosphatase 2C 78 Arabidopsis thaliana (Mouse-ear cress) PR
Q8VZN9 At1g43900 Probable protein phosphatase 2C 11 Arabidopsis thaliana (Mouse-ear cress) PR
Q94AT1 At5g53140 Probable protein phosphatase 2C 76 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LDA7 At3g15260 Probable protein phosphatase 2C 39 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MSSGAPQKSS PMASGAEETP GFLDTLLQDF PALLNPEDPL PWKAPGTVLS QEEVEGELAE
70 80 90 100 110 120
LAMGFLGSRK APPPLAAALA HEAVSQLLQT DLSEFRKLPR EEEEEEEDDD EEEKAPVTLL
130 140 150 160 170 180
DAQSLAQSFF NRLWEVAGQW QKQVPLAARA SQRQWLVSIH AIRNTRRKME DRHVSLPSFN
190 200 210 220 230 240
QLFGLSDPVN RAYFAVFDGH GGVDAARYAA VHVHTNAARQ PELPTDPEGA LREAFRRTDQ
250 260 270 280 290 300
MFLRKAKRER LQSGTTGVCA LIAGATLHVA WLGDSQVILV QQGQVVKLME PHRPERQDEK
310 320 330 340 350 360
ARIEALGGFV SHMDCWRVNG TLAVSRAIGD VFQKPYVSGE ADAASRALTG SEDYLLLACD
370 380 390 400 410 420
GFFDVVPHQE VVGLVQSHLT RQQGSGLRVA EELVAAARER GSHDNITVMV VFLRDPQELL
430 440 450
EGGNQGEGDP QAEGRRQDLP SSLPEPETQA PPRS