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 Q53GG5

Entry ID Method Resolution Chain Position Source
AF-Q53GG5-F1 Predicted AlphaFoldDB

345 variants for Q53GG5

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000822478
rs1227606973
CA358932890
3 Q>R Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000183698
RCV002345644
CA335491
RCV000766562
RCV001364044
rs781358846
4 T>M Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001070340
rs2095752062
9 G>S Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
RCV000852989
RCV001721144
rs146768859
RCV000456516
CA335479
10 P>L Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA112059605
RCV001037511
rs150125560
14 G>S Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs758987751
RCV001065995
CA3159926
16 R>M Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs2095751946
RCV001226455
19 G>A Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
RCV001227246
rs1305441463
20 G>C Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
RCV001060524
rs2095730997
36 S>N Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
rs2095730947
RCV001308782
44 C>Y Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
rs778943215
CA3159897
RCV000535572
47 D>E Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs754889669
CA3159893
RCV000795072
54 G>S Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001701792
RCV002518186
RCV000213791
RCV000462391
CA3159890
rs142951316
57 T>A Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001313161
rs199476399
RCV000024530
60 M>missing Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
RCV001325423
rs770996211
88 W>C Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
RCV001208426
CA3159854
rs373657946
93 S>C Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001296493
rs2095726024
106 E>missing Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
CA215392
RCV000629177
rs199476400
RCV000024533
106 E>A Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs777447396
RCV001242659
CA3159811
112 G>R Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001349047
rs769389710
CA3159810
116 E>Q Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1295481759
RCV001302130
CA358924990
118 K>N Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000852988
rs751951109
RCV002453933
CA3159805
122 R>Q Restrictive cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000024531
CA215388
RCV000181008
RCV000621333
VAR_050166
rs11944325
RCV001082000
127 V>M Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2095711219
RCV001043875
130 G>S Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
rs773342819
CA3159776
RCV001316293
141 I>T Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3159775
RCV002332604
rs769851440
RCV000797377
147 R>C Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3159774
rs528843301
RCV000560811
RCV002521532
RCV000424303
147 R>H Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs730880177
RCV000157406
CA346581
159 I>N Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000233406
rs878854982
CA10582224
171 A>T Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA3159762
RCV002348272
RCV000467359
rs138115202
177 E>A Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA3159761
RCV000534728
rs566270712
178 M>T Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA112044712
CA3159759
RCV000548484
rs765318874
RCV001046967
183 V>L Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001048479
rs2095701355
185 I>T Primary dilated cardiomyopathy [ClinVar] Yes ClinVar
dbSNP
CA16618039
RCV002526986
rs1064796959
RCV000486015
199 D>E Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV002360779
CA358923490
RCV000697320
rs1561192175
219 L>F Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001201563
rs768821275
CA3159728
222 E>K Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs747243505
RCV001243364
RCV002366072
CA3159727
226 S>L Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000629182
rs201185673
RCV001756013
RCV000619173
CA3159726
228 P>L Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002375246
RCV001234833
rs148256486
CA112043810
232 D>E Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000852987
RCV001702442
RCV000476923
rs143121072
CA3159720
233 V>L Cardiomyopathy Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001246970
rs143121072
COSM3392809
CA3159721
233 V>M pancreas Primary dilated cardiomyopathy [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765915778
CA3159718
RCV001230247
235 R>Q Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000786183
RCV001082207
rs142143310
RCV000509295
CA335485
RCV000221631
239 D>N Primary dilated cardiomyopathy Familial cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs780392840
CA3159711
RCV001216557
242 N>S Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA358922759
RCV000801158
rs1306620317
243 E>K Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000232736
RCV000181009
RCV000620242
CA215390
rs62347360
RCV000024532
245 T>I Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000208383
CA088495
rs377158204
RCV002515550
248 R>H Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs781084216
CA3159707
RCV003169014
RCV000820830
250 S>L Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs730880178
RCV000157407
CA346583
258 G>E Primary familial hypertrophic cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1554037747
RCV002413792
CA358922450
RCV000629181
260 V>G Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs878854983
RCV002411057
CA10582223
RCV000227639
260 V>M Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs750061720
RCV000695472
CA3159685
265 D>G Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs373419233
RCV002419001
CA3159684
RCV001340359
267 R>C Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1188446991
RCV001702091
RCV001234012
CA358921436
268 P>L Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA112042635
rs542630585
RCV001231601
268 P>T Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA3159680
RCV000786185
RCV001869178
rs764497554
271 T>M Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000629180
CA358921283
rs150070443
279 T>K Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000234315
COSM3392807
rs150070443
CA3159672
279 T>M pancreas Primary dilated cardiomyopathy [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779988849
RCV000629179
CA3159669
283 G>S Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3159656
rs768354891
RCV000816311
297 C>Y Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000619134
RCV000786184
rs143812960
CA335475
RCV000629178
299 S>N Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA358919911
RCV001857949
RCV000522798
rs1326853948
305 V>M Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs1561187562
RCV001326029
CA358919899
306 V>M Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000629183
rs200273032
CA335487
RCV000183696
RCV002516933
309 R>Q Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV002377441
rs146092339
RCV001339712
CA3159633
310 D>N Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000699853
CA3159630
RCV002533575
rs755255012
313 R>Q Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3159623
RCV000793921
rs756047162
RCV002370074
319 V>M Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000459101
CA16611619
RCV002379419
rs1060500600
331 G>V Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV000519664
RCV001223260
CA3159612
rs747338250
336 E>G Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA3159607
rs368815493
RCV000796336
342 E>K Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA247709
rs569673500
RCV001485614
RCV000180318
343 T>A Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
RCV000702610
RCV002388320
CA3159603
rs373408599
345 A>T Primary dilated cardiomyopathy Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA358919256
RCV000521953
RCV002527631
rs1179953014
347 A>V Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
CA3159599
rs764823333
RCV001065414
348 R>H Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000557125
rs1554037057
CA358919194
358 V>I Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA335489
RCV001062027
rs779267023
RCV000183697
361 Y>C Primary dilated cardiomyopathy [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA358932904
rs1306716699
2 P>L No ClinGen
gnomAD
rs1224883567
CA358932917
2 P>S No ClinGen
gnomAD
CA358932898
rs1301471750
3 Q>* No ClinGen
TOPMed
gnomAD
rs1000933182
CA112059646
4 T>A No ClinGen
TOPMed
gnomAD
CA358932876
rs781358846
4 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA3159934
rs751837590
5 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA3159933
rs371901477
6 I>F No ClinGen
ESP
ExAC
gnomAD
rs372538185
CA112059626
6 I>N No ClinGen
ESP
TOPMed
rs997411356
CA112059624
7 L>F No ClinGen
TOPMed
gnomAD
CA358932818
rs1360143548
7 L>P No ClinGen
gnomAD
CA358932802
rs1178742958
8 P>A No ClinGen
gnomAD
CA3159931
rs572128606
8 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs572128606
CA112059622
8 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA3159930
rs572128606
8 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA358932786
rs1179332943
9 G>D No ClinGen
gnomAD
CA358932719
rs1194638169
12 P>L No ClinGen
gnomAD
rs775251189
CA3159929
12 P>S No ClinGen
ExAC
gnomAD
rs767058196
CA3159928
13 W>G No ClinGen
ExAC
gnomAD
CA358932632
rs1345291628
16 R>S No ClinGen
TOPMed
gnomAD
rs1378501267
CA358932593
19 G>R No ClinGen
gnomAD
rs774385688
CA3159924
20 G>D No ClinGen
ExAC
gnomAD
CA358932576
rs1305441463
20 G>S No ClinGen
gnomAD
CA3159923
rs773605275
21 I>T No ClinGen
ExAC
gnomAD
CA358932527
rs1464915127
22 D>G No ClinGen
gnomAD
CA3159921
rs748724098
23 F>L No ClinGen
ExAC
gnomAD
rs781486882
CA3159920
25 Q>* No ClinGen
ExAC
gnomAD
rs971677958
CA112059558
26 P>R No ClinGen
Ensembl
CA3159918
rs747078028
29 I>M No ClinGen
ExAC
gnomAD
rs780461100
CA3159917
30 T>I No ClinGen
ExAC
gnomAD
rs758667413
CA3159916
31 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs182803361
CA3159902
38 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1232029998
CA358929699
43 L>V No ClinGen
TOPMed
gnomAD
rs758509064
CA3159899
45 P>L No ClinGen
ExAC
gnomAD
rs1402305678
CA358929606
46 G>R No ClinGen
gnomAD
CA3159898
rs746105849
47 D>G No ClinGen
ExAC
gnomAD
rs1387380333
CA358929536
48 V>I No ClinGen
gnomAD
rs1436263682
CA358929476
49 I>V No ClinGen
gnomAD
rs1393009610
CA358929387
51 A>S No ClinGen
gnomAD
CA3159896
rs755994888
51 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs752432016
CA3159895
52 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA358929171
rs1415876308
56 G>E No ClinGen
TOPMed
RCV000480269
rs754882710
58 E>missing No ClinVar
dbSNP
rs1561201996
CA358929124
58 E>G No ClinGen
Ensembl
CA3159888
rs764788096
60 M>L No ClinGen
ExAC
gnomAD
CA3159887
rs762274624
62 H>Y No ClinGen
ExAC
gnomAD
CA358928923
rs1259274846
63 A>V No ClinGen
gnomAD
rs776834572
CA3159886
64 D>E No ClinGen
ExAC
gnomAD
CA112053623
rs1030481395
64 D>Y No ClinGen
TOPMed
gnomAD
CA3159885
rs769091239
65 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA3159883
rs776072095
66 Q>* No ClinGen
ExAC
gnomAD
CA112053593
rs903031887
67 D>Y No ClinGen
TOPMed
CA358928800
rs1280409151
68 R>G No ClinGen
TOPMed
CA358928791
rs1301324218
68 R>K No ClinGen
TOPMed
gnomAD
rs1561201923
CA358928689
71 A>G No ClinGen
Ensembl
rs772290548
CA3159882
73 A>T No ClinGen
ExAC
gnomAD
CA358928623
rs1331970052
73 A>V No ClinGen
gnomAD
CA358928557
rs1209984769
76 L>M No ClinGen
TOPMed
CA3159880
rs766468700
78 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA3159878
rs771028495
79 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA358928425
rs1191199211
81 D>E No ClinGen
TOPMed
gnomAD
rs776195245
CA3159862
83 G>* No ClinGen
ExAC
TOPMed
gnomAD
CA112052301
rs776195245
83 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs772452819
CA3159861
84 E>* No ClinGen
ExAC
gnomAD
rs759700320
CA3159860
85 T>I No ClinGen
ExAC
gnomAD
CA3159859
rs577853473
86 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA3159858
rs770996211
88 W>* No ClinGen
ExAC
gnomAD
rs1561200671
CA358927542
88 W>R No ClinGen
Ensembl
CA358927518
rs1178485427
89 S>C No ClinGen
TOPMed
gnomAD
CA358927501
rs1355493976
90 P>A No ClinGen
gnomAD
rs749504795
CA3159856
91 Q>* No ClinGen
ExAC
gnomAD
rs1486864126
CA358927461
92 V>L No ClinGen
gnomAD
CA112052227
rs373657946
93 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1210471742
CA358927346
95 D>G No ClinGen
TOPMed
gnomAD
CA358927344
rs1210471742
95 D>V No ClinGen
TOPMed
gnomAD
CA358927297
rs1354733261
97 K>T No ClinGen
gnomAD
CA3159853
rs746797109
99 H>Y No ClinGen
ExAC
gnomAD
rs1222194139
CA358927246
100 P>L No ClinGen
gnomAD
rs1349820490
CA358927222
104 N>D No ClinGen
TOPMed
rs1448422407
CA358927199
107 S>P No ClinGen
gnomAD
CA3159852
rs758243142
109 P>R No ClinGen
ExAC
gnomAD
CA358927174
rs1310886697
110 Q>H No ClinGen
gnomAD
rs549674569
CA358925040
111 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3159813
rs143725812
111 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3159814
rs143725812
111 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1259450618
CA358925014
115 F>C No ClinGen
gnomAD
CA112047679
rs898065054
115 F>I No ClinGen
TOPMed
rs1447945863
CA358924984
119 H>R No ClinGen
gnomAD
CA358924979
rs1394156706
120 N>D No ClinGen
TOPMed
gnomAD
CA112047660
rs1036740562
121 I>V No ClinGen
gnomAD
rs755359056
CA3159806
122 R>W No ClinGen
ExAC
gnomAD
rs1580248508
CA358924950
124 K>N No ClinGen
Ensembl
rs1456628892
CA358924924
128 I>M No ClinGen
TOPMed
gnomAD
CA358924912
rs1418573250
129 P>L No ClinGen
gnomAD
CA358924881
rs866105307
131 R>L No ClinGen
TOPMed
CA112047618
rs866105307
131 R>Q No ClinGen
TOPMed
CA358924871
rs1315591311
132 S>N No ClinGen
TOPMed
rs772550208
CA3159803
133 S>G No ClinGen
ExAC
gnomAD
CA112044826
rs753921891
133 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs942373739
CA112044816
137 T>A No ClinGen
Ensembl
rs762780442
CA3159777
140 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA358924565
rs1580239851
144 G>D No ClinGen
Ensembl
rs1580239845
CA358924541
145 S>R No ClinGen
Ensembl
CA358924535
rs1477986709
146 G>R No ClinGen
gnomAD
CA358924523
rs769851440
147 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs776185705
CA3159773
148 S>N No ClinGen
ExAC
gnomAD
CA3159772
rs768005687
149 T>N No ClinGen
ExAC
gnomAD
RCV000492996
rs1131691306
CA358924477
150 P>S No ClinGen
ClinVar
Ensembl
dbSNP
CA358924444
rs1350389003
152 S>Y No ClinGen
TOPMed
gnomAD
CA3159770
rs775062269
153 V>I No ClinGen
ExAC
gnomAD
rs1233743579
CA358924359
158 T>I No ClinGen
gnomAD
rs1580239737
CA358924362
158 T>S No ClinGen
Ensembl
CA3159767
rs779435259
159 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA358924296
rs1346987136
162 G>A No ClinGen
TOPMed
gnomAD
rs1346987136
CA358924298
162 G>D No ClinGen
TOPMed
gnomAD
rs749708919
CA3159766
162 G>S No ClinGen
ExAC
gnomAD
rs1170378249
CA358924289
163 D>H No ClinGen
TOPMed
rs1307224239
CA358924039
165 K>N No ClinGen
gnomAD
rs772307008
CA112044774
165 K>Q No ClinGen
Ensembl
rs374691561
CA3159765
167 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371228193
CA3159764
167 A>V No ClinGen
ESP
ExAC
gnomAD
rs1580239579
CA358924025
168 A>S No ClinGen
Ensembl
rs1580239567
CA358924017
169 K>R No ClinGen
Ensembl
rs1580239554
CA358924013
170 L>M No ClinGen
Ensembl
rs1580239536
CA358924005
171 A>G No ClinGen
Ensembl
rs1561192318
CA358923998
172 P>L No ClinGen
Ensembl
CA358923987
rs1328220969
174 I>F No ClinGen
TOPMed
CA358923988
rs1328220969
174 I>V No ClinGen
TOPMed
CA358923974
rs1580239482
176 L>S No ClinGen
Ensembl
rs1189169482
CA358923955
178 M>I No ClinGen
gnomAD
CA358923938
rs1255668243
181 P>S No ClinGen
gnomAD
rs765318874
CA358923928
183 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1447674398
CA358923918
184 K>N No ClinGen
gnomAD
CA3159758
rs761837498
185 I>M No ClinGen
ExAC
gnomAD
rs1370714820
CA358923892
188 A>D No ClinGen
TOPMed
rs959658377
CA112044710
189 Q>R No ClinGen
Ensembl
rs763670084
CA3159756
190 F>L No ClinGen
ExAC
gnomAD
rs369885925
CA112044709
190 F>L No ClinGen
ESP
rs794729096
CA335483
RCV000183694
191 N>K No ClinGen
ClinVar
Ensembl
dbSNP
rs1343442539
CA358923859
193 P>L No ClinGen
TOPMed
rs1300421675
CA358923862
193 P>S No ClinGen
TOPMed
rs760087085
CA358923835
196 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA3159753
rs771679939
199 D>G No ClinGen
ExAC
gnomAD
rs746279543
CA3159752
200 D>H No ClinGen
ExAC
gnomAD
CA3159751
rs774719040
203 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA358923723
rs1399455647
204 E>G No ClinGen
gnomAD
CA358923712
rs1260924667
205 T>S No ClinGen
TOPMed
gnomAD
CA112044691
rs1021010073
208 G>D No ClinGen
Ensembl
CA358923652
rs1388637855
209 Q>E No ClinGen
gnomAD
CA358923630
rs1190214935
210 V>F No ClinGen
TOPMed
rs1248601284
CA358923560
215 G>E No ClinGen
TOPMed
rs1448724655
CA358923540
216 E>V No ClinGen
TOPMed
rs1475886457
CA358923508
218 P>L No ClinGen
gnomAD
rs150809809
CA3159749
218 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358923519
rs150809809
218 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375743721
CA3159748
220 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358923476
rs375743721
220 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358923117
rs1175762732
225 A>T No ClinGen
Ensembl
CA358923029
rs1356446915
229 P>H No ClinGen
TOPMed
gnomAD
rs1356446915
CA358923027
229 P>R No ClinGen
TOPMed
gnomAD
rs1443404539
CA358923034
229 P>T No ClinGen
gnomAD
CA358923013
rs1440043894
COSM1738955
230 E>K NS [Cosmic] No ClinGen
cosmic curated
TOPMed
CA3159723
rs777812739
231 S>L No ClinGen
ExAC
gnomAD
rs751273771
CA3159719
235 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA3159716
rs773433295
236 M>L No ClinGen
ExAC
gnomAD
rs770135681
CA3159715
237 L>F No ClinGen
ExAC
gnomAD
CA3159712
rs775988516
241 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3159713
rs768909650
COSM1220091
241 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs374935162
CA3159710
244 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1050946476
CA112043764
246 Q>K No ClinGen
Ensembl
rs1375808528
CA358922708
247 P>L No ClinGen
TOPMed
gnomAD
CA3159709
rs777436264
247 P>T No ClinGen
ExAC
gnomAD
rs755863715
CA3159708
248 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1482521322
CA358922652
251 G>S No ClinGen
gnomAD
rs1257789806
CA358922599
253 F>L No ClinGen
gnomAD
CA358922589
rs1212344585
254 R>I No ClinGen
gnomAD
CA358922571
rs1254946691
255 V>L No ClinGen
TOPMed
gnomAD
rs751026139
CA3159705
258 G>R No ClinGen
ExAC
gnomAD
CA3159702
rs750021846
262 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA358922403
rs1580236510
262 D>V No ClinGen
Ensembl
CA3159701
rs765723501
263 G>S No ClinGen
ExAC
gnomAD
CA358921472
rs1193206985
266 D>N No ClinGen
gnomAD
CA3159683
rs539118406
267 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA3159677
rs767518283
272 R>Q No ClinGen
ExAC
gnomAD
rs776026329
CA3159678
272 R>W No ClinGen
ExAC
gnomAD
CA3159675
rs759639015
273 S>N No ClinGen
ExAC
gnomAD
rs759639015
CA358921375
273 S>T No ClinGen
ExAC
gnomAD
rs774596253
CA3159674
275 R>K No ClinGen
ExAC
gnomAD
rs1371727157
CA358921323
276 A>V No ClinGen
gnomAD
rs1384878275
CA358921307
277 P>L No ClinGen
TOPMed
gnomAD
CA358921293
rs747992902
278 V>A No ClinGen
ExAC
gnomAD
rs747992902
CA3159673
278 V>E No ClinGen
ExAC
gnomAD
CA358921277
rs1167476323
280 K>E No ClinGen
TOPMed
gnomAD
rs764788987
CA112042579
283 G>D No ClinGen
Ensembl
CA112042574
rs574011141
284 G>C No ClinGen
ExAC
gnomAD
rs778768787
CA3159667
284 G>D No ClinGen
ExAC
gnomAD
rs574011141
CA3159668
284 G>S No ClinGen
ExAC
gnomAD
CA112042571
rs1002967178
285 S>* No ClinGen
TOPMed
rs1002967178
CA358921188
285 S>L No ClinGen
TOPMed
rs753475862
CA3159665
287 G>R No ClinGen
ExAC
gnomAD
CA3159663
rs756453272
288 A>E No ClinGen
ExAC
gnomAD
CA358921144
rs756453272
288 A>G No ClinGen
ExAC
gnomAD
rs1561189423
CA358921153
288 A>T No ClinGen
Ensembl
rs768037463
CA3159661
289 Q>E No ClinGen
ExAC
gnomAD
rs1187819272
CA358921103
291 M>I No ClinGen
gnomAD
rs200921332
CA3159660
292 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200921332
CA358921089
292 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763164171
CA358921018
296 K>I No ClinGen
ExAC
TOPMed
gnomAD
CA3159657
rs763164171
296 K>R No ClinGen
ExAC
TOPMed
gnomAD
COSM1738978
rs768354891
CA3159655
297 C>F haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3159654
rs775360491
298 G>E No ClinGen
ExAC
gnomAD
CA3159653
rs775360491
298 G>V No ClinGen
ExAC
gnomAD
rs1580233099
CA358920965
299 S>R No ClinGen
Ensembl
RCV000620687
CA112042510
rs1034968896
299 S>R No ClinGen
ClinVar
TOPMed
dbSNP
CA3159652
rs745737342
300 G>D No ClinGen
ExAC
gnomAD
CA358920964
rs1171370198
300 G>S No ClinGen
gnomAD
rs1364726114
CA358920918
302 V>A No ClinGen
gnomAD
rs945755028
CA112040611
303 G>S No ClinGen
TOPMed
CA358919917
rs1210309583
304 A>G No ClinGen
gnomAD
rs771699213
CA3159637
306 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs774383499
CA358919858
308 A>G No ClinGen
ExAC
gnomAD
rs779866944
CA3159636
308 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs774383499
CA3159635
308 A>V No ClinGen
ExAC
gnomAD
RCV000087222
rs483352737
CA229146
309 R>W No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1388328817
CA358919837
310 D>A No ClinGen
TOPMed
gnomAD
rs1388328817
CA358919834
310 D>G No ClinGen
TOPMed
gnomAD
rs747696179
CA3159632
311 K>N No ClinGen
ExAC
gnomAD
CA112040570
rs1002047690
312 Y>H No ClinGen
TOPMed
CA358919786
rs144286715
313 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3159631
rs144286715
313 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750492492
CA3159627
315 P>H No ClinGen
ExAC
gnomAD
rs750492492
CA3159626
315 P>R No ClinGen
ExAC
gnomAD
rs780511861
CA3159628
315 P>S No ClinGen
ExAC
gnomAD
rs780511861
CA3159629
315 P>T No ClinGen
ExAC
gnomAD
CA358919724
rs1248527723
317 C>G No ClinGen
gnomAD
CA3159625
rs765177053
317 C>W No ClinGen
ExAC
gnomAD
rs1335155567
CA358919709
318 F>C No ClinGen
TOPMed
CA358919697
rs756047162
319 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1222033564
CA358919667
321 A>T No ClinGen
gnomAD
rs774470984
CA3159620
322 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA3159621
rs774470984
322 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs766415797
CA3159619
325 L>F No ClinGen
ExAC
gnomAD
CA358919560
rs1228328230
327 L>V No ClinGen
TOPMed
CA358919539
rs1299231345
328 K>R No ClinGen
gnomAD
CA358919498
rs1365195566
330 K>N No ClinGen
gnomAD
rs1433516310
CA358919505
330 K>T No ClinGen
gnomAD
rs772792268
CA3159617
332 Y>H No ClinGen
ExAC
gnomAD
CA3159616
rs555694674
333 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs149332321
CA3159614
335 I>K No ClinGen
ESP
ExAC
gnomAD
rs149332321
CA3159613
335 I>T No ClinGen
ESP
ExAC
gnomAD
CA358919415
rs1392077999
335 I>V No ClinGen
gnomAD
CA3159610
rs535502739
337 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs368815493
CA3159608
342 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3159605
rs764191858
344 H>Y No ClinGen
ExAC
rs1342006001
CA358919265
346 R>G No ClinGen
gnomAD
CA3159602
rs762986959
346 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs762986959
CA3159601
346 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs537302602
CA112040421
347 A>P No ClinGen
Ensembl
rs772981250
CA3159600
348 R>C No ClinGen
ExAC
gnomAD
rs764823333
CA358919253
348 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs761204525
CA3159598
351 P>L No ClinGen
ExAC
gnomAD
CA358919230
rs1372648010
352 P>S No ClinGen
gnomAD
rs746610846
CA3159595
353 E>G No ClinGen
ExAC
gnomAD
rs768290059
CA3159596
353 E>K No ClinGen
ExAC
rs894305827
CA112040381
355 Y>C No ClinGen
TOPMed
gnomAD
rs894305827
CA358919209
355 Y>F No ClinGen
TOPMed
gnomAD
CA358919212
rs1173227868
355 Y>H No ClinGen
TOPMed
rs920811532
CA112040370
357 T>A No ClinGen
Ensembl
rs775841507
CA3159594
357 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA3159592
rs746412079
361 Y>H No ClinGen
ExAC
gnomAD

No associated diseases with Q53GG5

4 regional properties for Q53GG5

Type Name Position InterPro Accession
domain PDZ domain 8 - 84 IPR001478
domain Zinc finger, LIM-type 292 - 351 IPR001781
domain Zasp-like motif 184 - 209 IPR006643
domain Domain of unknown function DUF4749 184 - 263 IPR031847

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, myofibril, sarcomere, Z line
  • Localizes to myofiber Z-lines
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
adherens junction A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
filamentous actin A two-stranded helical polymer of the protein actin.
stress fiber A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.
Z disc Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

3 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
metal ion binding Binding to a metal ion.
muscle alpha-actinin binding Binding to muscle isoforms of actinin. Muscle alpha-actinin isoforms are found in skeletal and cardiac muscle and are localized to the Z-disc.

3 GO annotations of biological process

Name Definition
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 cytoskeletal structures comprising actin filaments and their associated proteins.
heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
muscle structure development The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3SYZ8 PDLIM3 PDZ and LIM domain protein 3 Bos taurus (Bovine) PR
P49024 PXN Paxillin Gallus gallus (Chicken) PR
Q9PU47 PDLIM3 PDZ and LIM domain protein 3 Gallus gallus (Chicken) PR
P49023 PXN Paxillin Homo sapiens (Human) PR
O43294 TGFB1I1 Transforming growth factor beta-1-induced transcript 1 protein Homo sapiens (Human) PR
Q62219 Tgfb1i1 Transforming growth factor beta-1-induced transcript 1 protein Mus musculus (Mouse) PR
Q8VI36 Pxn Paxillin Mus musculus (Mouse) PR
O70209 Pdlim3 PDZ and LIM domain protein 3 Mus musculus (Mouse) PR
Q6QGC0 PDLIM3 PDZ and LIM domain protein 3 Sus scrofa (Pig) PR
Q66H76 Pxn Paxillin Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MPQTVILPGP APWGFRLSGG IDFNQPLVIT RITPGSKAAA ANLCPGDVIL AIDGFGTESM
70 80 90 100 110 120
THADAQDRIK AAAHQLCLKI DRGETHLWSP QVSEDGKAHP FKINLESEPQ DGNYFEHKHN
130 140 150 160 170 180
IRPKPFVIPG RSSGCSTPSG IDCGSGRSTP SSVSTVSTIC PGDLKVAAKL APNIPLEMEL
190 200 210 220 230 240
PGVKIVHAQF NTPMQLYSDD NIMETLQGQV STALGETPLM SEPTASVPPE SDVYRMLHDN
250 260 270 280 290 300
RNEPTQPRQS GSFRVLQGMV DDGSDDRPAG TRSVRAPVTK VHGGSGGAQR MPLCDKCGSG
310 320 330 340 350 360
IVGAVVKARD KYRHPECFVC ADCNLNLKQK GYFFIEGELY CETHARARTK PPEGYDTVTL
YPKA