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

43 structures for P51398

Entry ID Method Resolution Chain Position Source
3J9M EM 350 A AX 1-398 PDB
6NU2 EM 390 A AX 51-398 PDB
6NU3 EM 440 A AX 1-398 PDB
6RW4 EM 297 A X 1-398 PDB
6RW5 EM 314 A X 1-398 PDB
6VLZ EM 297 A AX 1-398 PDB
6VMI EM 296 A AX 1-398 PDB
6ZM5 EM 289 A AX 1-398 PDB
6ZM6 EM 259 A AX 1-398 PDB
6ZS9 EM 400 A AX 51-398 PDB
6ZSA EM 400 A AX 51-398 PDB
6ZSB EM 450 A AX 51-398 PDB
6ZSC EM 350 A AX 51-398 PDB
6ZSD EM 370 A AX 51-398 PDB
6ZSE EM 500 A AX 51-398 PDB
6ZSG EM 400 A AX 51-398 PDB
7A5F EM 440 A X6 1-398 PDB
7A5G EM 433 A X6 1-398 PDB
7A5I EM 370 A X6 1-398 PDB
7A5K EM 370 A X6 1-398 PDB
7L08 EM 349 A AX 1-398 PDB
7OG4 EM 380 A AX 1-398 PDB
7P2E EM 240 A X 1-398 PDB
7PNX EM 276 A X 1-398 PDB
7PNY EM 306 A X 1-398 PDB
7PNZ EM 309 A X 1-398 PDB
7PO0 EM 290 A X 1-398 PDB
7PO1 EM 292 A X 1-398 PDB
7PO2 EM 309 A X 1-398 PDB
7PO3 EM 292 A X 1-398 PDB
7QI4 EM 221 A AX 1-398 PDB
7QI5 EM 263 A AX 1-398 PDB
7QI6 EM 298 A AX 1-398 PDB
8ANY EM 285 A AX 1-398 PDB
8CSP EM 266 A X 1-398 PDB
8CSQ EM 254 A X 1-398 PDB
8CSR EM 254 A X 1-398 PDB
8CSS EM 236 A X 1-398 PDB
8CST EM 285 A X 1-398 PDB
8CSU EM 303 A X 1-398 PDB
8OIR EM 310 A AX 1-398 PDB
8OIS EM 300 A AX 1-398 PDB
AF-P51398-F1 Predicted AlphaFoldDB

333 variants for P51398

Variant ID(s) Position Change Description Diseaes Association Provenance
CA30989433
rs372811843
2 M>I No ClinGen
ESP
TOPMed
gnomAD
rs61755343
CA1149136
5 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1410395608
CA342775069
COSM243954
5 G>R prostate [Cosmic] No ClinGen
cosmic curated
Ensembl
rs61755343
CA1149137
5 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772166563
CA1149139
7 T>I No ClinGen
ExAC
rs1432674029
CA342775098
8 R>G No ClinGen
gnomAD
rs775495982
CA1149140
10 I>L No ClinGen
ExAC
gnomAD
rs760898731
CA1149141
12 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA342775152
rs1470221997
13 I>N No ClinGen
TOPMed
gnomAD
CA342775159
rs1397911722
14 H>D No ClinGen
gnomAD
CA1149142
rs764152940
14 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1345656156
CA342763540
17 D>V No ClinGen
gnomAD
CA342763559
rs1278123325
18 P>L No ClinGen
gnomAD
TCGA novel 19 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770793096
COSM243953
CA1149159
20 R>C prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
COSM896969
rs1274099843
CA342763578
20 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs560216710
CA342763627
23 H>P No ClinGen
1000Genomes
CA30936823
rs560216710
23 H>R No ClinGen
1000Genomes
rs775549205
CA1149160
24 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA342763639
rs1557781464
24 M>V No ClinGen
Ensembl
CA342763687
rs1571507494
26 T>I No ClinGen
Ensembl
CA342763678
rs1333441738
26 T>S No ClinGen
Ensembl
CA342763692
rs1490553650
27 Q>* No ClinGen
gnomAD
CA1149164
rs145929335
29 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1149165
rs369774038
29 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1149166
rs370992701
31 S>G No ClinGen
ESP
ExAC
gnomAD
TCGA novel 31 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200523835
CA1149167
32 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1149168
rs763561074
32 I>S No ClinGen
ExAC
gnomAD
rs200523835
CA30936958
32 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1019811247
CA30936959
34 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA342763815
rs1418571902
35 H>R No ClinGen
TOPMed
gnomAD
rs1365737302
CA342763810
COSM3802125
35 H>Y Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1295753368
CA342763831
36 L>R No ClinGen
gnomAD
rs752102492
CA1149170
38 N>K No ClinGen
ExAC
gnomAD
rs755677116
CA30936990
39 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs755677116
CA342763871
39 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA1149173
COSM896970
rs752327968
39 Q>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs755677116
CA1149171
39 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA1149172
rs146211768
39 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs925547082
CA30937004
40 V>F No ClinGen
TOPMed
CA342763900
rs1317435523
41 P>A No ClinGen
gnomAD
rs755738906
CA1149175
42 V>A No ClinGen
ExAC
gnomAD
rs755738906
CA1149174
42 V>D No ClinGen
ExAC
gnomAD
CA1149176
rs749012692
43 E>K No ClinGen
ExAC
gnomAD
rs757038621
CA1149177
44 S>R No ClinGen
ExAC
gnomAD
rs370236932
CA30937036
45 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1149179
rs373966776
45 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370236932
CA1149178
45 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA30937045
rs936896915
46 R>K No ClinGen
TOPMed
gnomAD
rs1185138220
CA342764008
48 I>V No ClinGen
gnomAD
rs1385496823
CA342764034
49 S>F No ClinGen
gnomAD
CA1149182
rs377474444
50 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs149919712
CA1149183
COSM1334693
50 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1319635829
CA342764058
51 T>I No ClinGen
gnomAD
CA1149184
rs773565559
51 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1571508083
CA342764132
55 D>G No ClinGen
Ensembl
CA30937095
rs201385663
56 P>L No ClinGen
TOPMed
gnomAD
rs774733542
CA1149205
58 K>N No ClinGen
ExAC
gnomAD
rs1321458708
CA342764968
59 H>R No ClinGen
TOPMed
gnomAD
CA1149206
rs759970366
59 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1357449951
CA342764972
60 G>R No ClinGen
TOPMed
CA1149207
rs767996923
61 D>N No ClinGen
ExAC
gnomAD
CA1149208
rs775853011
61 D>V No ClinGen
ExAC
gnomAD
CA342764994
rs1411226963
63 H>Y No ClinGen
TOPMed
rs1196459888
CA342765000
64 E>K No ClinGen
TOPMed
gnomAD
CA342765003
rs1443574435
64 E>V No ClinGen
TOPMed
CA342765010
rs763570884
65 G>D No ClinGen
ExAC
gnomAD
rs879023821
CA342765008
65 G>R No ClinGen
gnomAD
CA30939461
rs879023821
65 G>S No ClinGen
gnomAD
rs763570884
CA1149210
65 G>V No ClinGen
ExAC
gnomAD
CA342765016
rs1256281261
66 Q>R No ClinGen
TOPMed
CA342765032
rs1437998180
68 Y>C No ClinGen
gnomAD
TCGA novel 68 Y>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753527370
CA1149211
69 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs112771778
CA1149215
71 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112771778
CA1149214
71 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1481123806
CA342765056
72 P>S No ClinGen
gnomAD
CA1149217
rs758124736
73 Q>K No ClinGen
ExAC
gnomAD
rs1465445158
CA342765063
73 Q>L No ClinGen
TOPMed
gnomAD
rs757230517 73 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs757230517 73 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA342765064
rs1465445158
73 Q>R No ClinGen
TOPMed
gnomAD
rs751431768
CA1149219
80 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1391190094
CA342765120
81 H>Q No ClinGen
TOPMed
rs374151645
CA1149220
81 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs187192135
CA30939500
81 H>Y No ClinGen
1000Genomes
TOPMed
CA30939515
rs1802737
83 L>F No ClinGen
Ensembl
CA342765137
rs1283859728
84 P>L No ClinGen
gnomAD
rs749547998
CA1149222
86 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1224997587
CA342765146
86 R>H No ClinGen
gnomAD
CA1149224
rs779146216
88 V>A No ClinGen
ExAC
gnomAD
rs766255365
CA30939524
CA1149225
89 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA342765171
rs1287295551
90 Q>* No ClinGen
gnomAD
rs1571538948
CA342766565
92 K>E No ClinGen
Ensembl
CA342766581
rs1239831582
93 T>A No ClinGen
TOPMed
CA1149268
rs747307421
94 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 95 S>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1149269
rs755321949
98 C>Y No ClinGen
ExAC
gnomAD
CA1149270
rs781700081
107 E>K No ClinGen
ExAC
CA1149271
rs748621976
108 L>I No ClinGen
ExAC
gnomAD
CA1149272
rs769374598
110 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs772546005
CA1149273
111 Y>D No ClinGen
ExAC
gnomAD
rs748979582
CA1149274
112 L>V No ClinGen
ExAC
gnomAD
CA342766821
rs1330274964
115 T>S No ClinGen
gnomAD
rs1557790875
CA342766839
116 S>N No ClinGen
Ensembl
CA1149275
rs147691190
117 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1392652652
CA342766871
118 A>V No ClinGen
gnomAD
rs548531604
CA1149277
120 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 121 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA342766904
rs1223493932
121 A>S No ClinGen
gnomAD
TCGA novel 121 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1149278
rs138952726
122 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342766914
rs1440910600
122 I>V No ClinGen
TOPMed
gnomAD
CA30941951
rs916908988
123 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs567143323
CA1149279
124 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1204642983
CA342766933
124 Y>H No ClinGen
gnomAD
TCGA novel 127 Y>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA342766966
rs1479757419
127 Y>H No ClinGen
gnomAD
CA30942357
rs200299293
129 E>Q No ClinGen
TOPMed
gnomAD
rs1244860052
CA342767313
130 K>R No ClinGen
gnomAD
rs751809259
CA1149303
131 G>E No ClinGen
ExAC
gnomAD
CA1149304
rs759703250
132 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1149305
rs759703250
132 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA342767334
rs1288779045
134 K>E No ClinGen
gnomAD
CA1149306
rs752934883
134 K>N No ClinGen
ExAC
gnomAD
CA342767336
rs1360393656
134 K>R No ClinGen
gnomAD
rs1024150834
CA30942388
135 T>A No ClinGen
TOPMed
gnomAD
CA342767347
rs1243912189
136 L>P No ClinGen
gnomAD
rs1358938352
CA342767345
136 L>V No ClinGen
gnomAD
CA1149307
rs756492236
138 L>F No ClinGen
ExAC
rs1294098843
CA342767374
140 H>R No ClinGen
gnomAD
CA1149308
rs778205623
141 V>L No ClinGen
ExAC
gnomAD
rs971530058
CA30942400
142 I>T No ClinGen
Ensembl
rs756760074
CA1149310
144 F>S No ClinGen
ExAC
gnomAD
rs756760074
CA342767400
144 F>Y No ClinGen
ExAC
gnomAD
rs1186832758
CA342767416
146 A>G No ClinGen
gnomAD
rs1486728831
CA342767413
146 A>P No ClinGen
gnomAD
rs778529321
CA1149311
147 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs369933128
CA1149312
148 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA30942430
rs926948524
149 D>N No ClinGen
TOPMed
gnomAD
CA1149314
rs771793968
151 L>P No ClinGen
ExAC
gnomAD
TCGA novel 152 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343886243
CA342767460
153 L>I No ClinGen
TOPMed
gnomAD
CA342767481
rs568206981
156 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs953049679
CA30942444
156 P>L No ClinGen
TOPMed
gnomAD
rs953049679
CA342767483
156 P>R No ClinGen
TOPMed
gnomAD
rs568206981
CA1149317
156 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs12096547
CA30942447
157 D>N No ClinGen
Ensembl
rs768367176
CA1149338
158 A>G No ClinGen
ExAC
gnomAD
CA1149337
rs768367176
158 A>V No ClinGen
ExAC
gnomAD
rs1362816967
CA342767523
161 W>G No ClinGen
TOPMed
rs1362816967
CA342767522
161 W>R No ClinGen
TOPMed
CA1149340
rs769648994
162 V>M No ClinGen
ExAC
TOPMed
CA1149342
rs759666299
165 C>Y No ClinGen
ExAC
gnomAD
rs772121458
CA1149344
166 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1149345
rs760914706
166 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs772121458
CA1149343
166 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA30943448
rs200493494
169 L>P No ClinGen
1000Genomes
rs202169688
CA30943449
170 Q>R No ClinGen
1000Genomes
rs146215312
CA1149347
172 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342767618
rs1429125945
175 K>R No ClinGen
gnomAD
CA342767617
rs1429125945
175 K>T No ClinGen
gnomAD
rs762415303
CA1149348
176 Q>R No ClinGen
ExAC
gnomAD
rs1178975472
CA342767629
177 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1149349
rs141747463
177 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1149350
rs141747463
COSM3979878
177 R>L ovary [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 180 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1149351
rs758021996
181 P>L No ClinGen
ExAC
gnomAD
CA1149352
rs765872809
182 L>* No ClinGen
ExAC
rs1327083426
CA342767669
183 E>Q No ClinGen
gnomAD
rs751192310
CA1149353
186 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA30943491
rs946995325
189 K>E No ClinGen
TOPMed
gnomAD
rs754599105
CA1149354
189 K>T No ClinGen
ExAC
gnomAD
rs201777168
CA1149355
192 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1232488909
CA342767746
194 T>I No ClinGen
TOPMed
rs748000917
CA1149356
194 T>S No ClinGen
ExAC
gnomAD
CA1149357
rs755886022
196 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs150553683
CA1149359
197 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772079263
CA1149360
197 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1149361
rs775592927
198 F>L No ClinGen
ExAC
gnomAD
CA342767815
rs1451536392
202 I>M No ClinGen
gnomAD
CA1149395
rs752381978
207 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA1149396
rs371263118
207 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752381978
CA1149394
207 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs545683945
CA30944391
208 Y>C No ClinGen
Ensembl
TCGA novel 210 W>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30944400
rs975191251
212 K>E No ClinGen
TOPMed
gnomAD
CA30944409
rs760795857
212 K>R No ClinGen
TOPMed
TCGA novel 213 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1149398
rs756999098
COSM3728009
213 R>T haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs778968624
CA1149399
214 E>G No ClinGen
ExAC
gnomAD
CA1149402
rs781370831
217 E>A No ClinGen
ExAC
gnomAD
rs1188280780
CA342767932
219 G>E No ClinGen
gnomAD
rs748394462
CA1149403
221 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs748394462
CA1149404
221 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA342767955
rs1571553195
223 G>E No ClinGen
Ensembl
rs1186080468
CA342767970
225 V>A No ClinGen
TOPMed
CA1149406
rs749717538
226 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs1452874782
CA342767972
226 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 227 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 228 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30944579
rs552936757
231 T>A No ClinGen
Ensembl
CA342768018
rs757669207
231 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA1149427
rs757669207
231 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs145328544
CA342768021
232 R>L No ClinGen
ESP
ExAC
gnomAD
CA1149429
rs145328544
232 R>P No ClinGen
ESP
ExAC
gnomAD
CA30944612
rs145328544
232 R>Q No ClinGen
ESP
ExAC
gnomAD
CA1149428
rs200984755
232 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs373985177
CA1149430
233 V>M No ClinGen
ESP
ExAC
gnomAD
CA30944628
rs867839385
235 N>S No ClinGen
Ensembl
CA30944632
rs868612639
236 A>T No ClinGen
TOPMed
gnomAD
CA342768055
rs1250903021
238 D>V No ClinGen
gnomAD
CA1149432
rs147699097
239 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342768062
rs1431045753
239 A>S No ClinGen
TOPMed
CA342768064
rs147699097
239 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776387238
CA1149435
240 V>A No ClinGen
ExAC
TOPMed
gnomAD
RCV000974037
CA1149434
rs57692591
VAR_061811
240 V>F No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1149436
rs761333313
246 E>* No ClinGen
ExAC
gnomAD
rs1437091159
CA342768119
248 K>N No ClinGen
gnomAD
CA1149439
rs371226776
248 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1149440
rs766481911
250 Q>R No ClinGen
ExAC
gnomAD
CA30944703
rs1802736
253 L>F No ClinGen
Ensembl
rs751517938
CA342768155
254 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1149441
rs751517938
254 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA1149442
rs756299657
254 G>V No ClinGen
ExAC
gnomAD
CA30944712
rs1025391605
255 M>T No ClinGen
TOPMed
gnomAD
rs764225657
CA1149443
257 H>P No ClinGen
ExAC
gnomAD
TCGA novel 261 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs536698370
CA1149448
262 V>M No ClinGen
1000Genomes
ExAC
gnomAD
CA30944760
rs750472379
263 D>G No ClinGen
Ensembl
rs1305941570
CA342768222
264 G>V No ClinGen
gnomAD
rs780589326
CA1149449
266 N>S No ClinGen
ExAC
gnomAD
CA342768241
rs1275503948
267 A>D No ClinGen
TOPMed
gnomAD
rs1275503948
CA342768242
267 A>G No ClinGen
TOPMed
gnomAD
rs754890180
CA1149450
268 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA1149451
rs754890180
268 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 271 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 271 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747840157
CA1149454
274 L>M No ClinGen
ExAC
gnomAD
rs1259275986
CA342768301
277 E>Q No ClinGen
gnomAD
rs1450992107
CA342768324
278 D>E No ClinGen
TOPMed
gnomAD
rs375689451
CA1149456
281 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1149455
rs375689451
281 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748905247
CA1149476
282 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs1571562477
CA342769023
282 I>T No ClinGen
Ensembl
rs774233914
CA1149478
285 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs200201625
CA342769070
289 L>H No ClinGen
1000Genomes
TOPMed
CA30946130
rs200201625
289 L>P No ClinGen
1000Genomes
TOPMed
rs947849567
CA30946133
291 H>Q No ClinGen
TOPMed
gnomAD
CA342769092
rs1330963248
COSM1319909
292 N>K ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA342769099
rs1557799139
293 L>F No ClinGen
Ensembl
rs137992488
CA30946134
294 R>S No ClinGen
ESP
gnomAD
rs775488543
CA1149481
295 K>E No ClinGen
ExAC
CA1149482
rs200594001
296 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA342769124
rs1459731258
297 M>T No ClinGen
gnomAD
CA342769123
rs1571562723
297 M>V No ClinGen
Ensembl
CA1149483
rs765328982
300 D>E No ClinGen
ExAC
gnomAD
rs750677739
CA1149484
301 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA1149499
rs745719677
303 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA342769193
rs369936772
305 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369936772
CA1149501
305 A>T Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1477244495
CA342769197
306 I>V No ClinGen
gnomAD
rs769788706
CA1149503
307 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs371707774
CA1149504
308 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA30946534
rs1021780329
309 A>P No ClinGen
Ensembl
rs79717735
CA30946552
310 L>F No ClinGen
gnomAD
CA342769284
rs1571564446
319 P>L No ClinGen
Ensembl
rs766644128
CA1149506
320 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs759857997
CA1149508
320 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs766644128
CA1149507
320 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA1149510
rs753162108
322 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1041724474
CA342769306
323 Y>C No ClinGen
TOPMed
gnomAD
CA30946576
rs1041724474
323 Y>F No ClinGen
TOPMed
gnomAD
rs1228497740
CA342769310
324 L>V No ClinGen
TOPMed
rs1571564561
CA342769318
325 P>L No ClinGen
Ensembl
rs373125599
CA30946588
325 P>S No ClinGen
Ensembl
rs767022342
CA1149512
326 Q>* No ClinGen
ExAC
gnomAD
CA342769324
rs1276218579
326 Q>H No ClinGen
gnomAD
CA1149532
rs539027947
333 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1254239988
CA342769797
335 D>N No ClinGen
gnomAD
CA1149533
rs750065441
336 A>T No ClinGen
ExAC
gnomAD
rs758012904
CA1149534
337 L>V No ClinGen
ExAC
gnomAD
CA342769831
rs1161147412
340 F>C No ClinGen
gnomAD
CA342769828
rs1471502421
340 F>L No ClinGen
gnomAD
rs984834933
CA30949222
342 P>L No ClinGen
Ensembl
rs930724668
CA342769841
342 P>S No ClinGen
gnomAD
rs930724668
CA30949217
342 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1149536
rs41264967
345 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1300706225
CA342769869
347 N>D No ClinGen
gnomAD
rs1403724735
CA342769880
348 Y>C No ClinGen
gnomAD
rs1557805320
CA342769896
350 P>R No ClinGen
Ensembl
CA342769913
rs373938510
352 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 352 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1350365247
CA342769920
353 F>L No ClinGen
gnomAD
CA342769919
rs1557805366
353 F>S No ClinGen
Ensembl
rs940706352
CA30949229
356 C>R No ClinGen
Ensembl
rs771017753
CA342769949
357 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA1149540
rs771017753
357 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1149541
rs150623601
358 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1149543
rs772402501
364 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA342770010
rs1254420128
COSM896975
365 W>* endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 366 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30949251
rs901113004
367 Q>* No ClinGen
Ensembl
rs1411968226
CA342770034
369 E>K No ClinGen
TOPMed
CA342770436
rs1571586421
374 E>A No ClinGen
Ensembl
rs772026004
CA1149564
374 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772026004
CA342770431
374 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 379 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA342770572
rs1431035105
COSM529253
382 F>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs747163345
CA1149566
382 F>S No ClinGen
ExAC
gnomAD
rs769165051
CA1149568
383 L>V No ClinGen
ExAC
gnomAD
rs148826948
CA1149570
385 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773568256
CA1149571
386 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA1149572
rs762562887
386 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA342770650
rs1571586563
387 N>T No ClinGen
Ensembl
CA30949762
rs953474208
388 P>R No ClinGen
TOPMed
gnomAD
CA30949756
rs1802733
388 P>T No ClinGen
Ensembl
CA1149576
rs575591189
389 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759126801
CA1149575
389 S>P No ClinGen
ExAC
gnomAD
CA1149579
rs777818536
390 L>P No ClinGen
ExAC
gnomAD
TCGA novel 390 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30949770
rs559561890
391 L>P No ClinGen
Ensembl
rs536103220
CA1149580
392 E>K No ClinGen
ExAC
gnomAD
CA1149582
rs779948728
393 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1149581
rs758540792
393 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1450821688
CA342770708
394 H>Y No ClinGen
gnomAD
CA1149584
rs111463064
395 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1149585
rs781562698
395 C>Y No ClinGen
ExAC
gnomAD
rs1466143859
CA342770725
396 A>V No ClinGen
TOPMed
CA342770730
rs1423798192
397 Y>C No ClinGen
gnomAD
CA342770736
rs1351987058
398 L>H No ClinGen
gnomAD
CA1149586
rs748570143
398 L>V No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with P51398

No regional properties for P51398

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P51398

Functions

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

4 GO annotations of cellular component

Name Definition
mitochondrial inner membrane The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
mitochondrial small ribosomal subunit The smaller of the two subunits of a mitochondrial ribosome.
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.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

3 GO annotations of molecular function

Name Definition
GTP binding Binding to GTP, guanosine triphosphate.
RNA binding Binding to an RNA molecule or a portion thereof.
structural constituent of ribosome The action of a molecule that contributes to the structural integrity of the ribosome.

2 GO annotations of biological process

Name Definition
apoptotic signaling pathway The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.
mitochondrial translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q01163 RSM23 37S ribosomal protein S23, mitochondrial Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P82922 DAP3 28S ribosomal protein S29, mitochondrial Bos taurus (Bovine) PR
10 20 30 40 50 60
MMLKGITRLI SRIHKLDPGR FLHMGTQARQ SIAAHLDNQV PVESPRAISR TNENDPAKHG
70 80 90 100 110 120
DQHEGQHYNI SPQDLETVFP HGLPPRFVMQ VKTFSEACLM VRKPALELLH YLKNTSFAYP
130 140 150 160 170 180
AIRYLLYGEK GTGKTLSLCH VIHFCAKQDW LILHIPDAHL WVKNCRDLLQ SSYNKQRFDQ
190 200 210 220 230 240
PLEASTWLKN FKTTNERFLN QIKVQEKYVW NKRESTEKGS PLGEVVEQGI TRVRNATDAV
250 260 270 280 290 300
GIVLKELKRQ SSLGMFHLLV AVDGINALWG RTTLKREDKS PIAPEELALV HNLRKMMKND
310 320 330 340 350 360
WHGGAIVSAL SQTGSLFKPR KAYLPQELLG KEGFDALDPF IPILVSNYNP KEFESCIQYY
370 380 390
LENNWLQHEK APTEEGKKEL LFLSNANPSL LERHCAYL