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

2 structures for Q9Y217

Entry ID Method Resolution Chain Position Source
2YF0 X-ray 265 A A 1-505 PDB
AF-Q9Y217-F1 Predicted AlphaFoldDB

463 variants for Q9Y217

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1334003439
CA387598873
3 H>N No ClinGen
TOPMed
gnomAD
rs1392461566
CA387598869
3 H>R No ClinGen
gnomAD
rs779343299
CA6921727
4 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA247128099
rs996238686
5 R>G No ClinGen
TOPMed
gnomAD
rs755332397
CA6921726
5 R>Q No ClinGen
ExAC
gnomAD
CA247128097
rs996238686
5 R>W No ClinGen
TOPMed
gnomAD
rs370445501
CA6921725
6 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387598853
rs370445501
6 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764356839
CA247128091
6 T>S No ClinGen
Ensembl
CA6921723
rs755660799
8 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749965290
CA6921722
8 K>R No ClinGen
ExAC
gnomAD
rs746300978 9 V>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1283066457
CA387611739
9 V>F No ClinGen
gnomAD
rs373972921
CA387611729
10 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs373972921
CA6921700
10 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387611709
rs1456450407
11 Q>R No ClinGen
gnomAD
rs763812697
CA6921697
12 V>I No ClinGen
ExAC
gnomAD
rs763812697
CA6921698
12 V>L No ClinGen
ExAC
gnomAD
rs1284569072
CA387611674
14 L>S No ClinGen
TOPMed
CA387611668
rs1566042343
15 L>F No ClinGen
Ensembl
CA387611665
rs1326298980
15 L>R No ClinGen
TOPMed
CA387611664
rs1220303952
16 D>N No ClinGen
TOPMed
CA247112276
rs758304228
17 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs956599398
CA247112248
17 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6921695
rs761285926
COSM550969
19 S>G lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1488046144
CA387611634
20 T>S No ClinGen
TOPMed
rs1198430836
CA387611618
22 N>K No ClinGen
TOPMed
gnomAD
rs201075999
CA6921694
22 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759554451
CA6921693
24 S>* No ClinGen
ExAC
gnomAD
rs776430914
CA6921692
25 L>V No ClinGen
ExAC
gnomAD
TCGA novel 26 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921691
rs767695916
26 T>R No ClinGen
ExAC
gnomAD
CA247112203
rs866371460
26 T>S No ClinGen
Ensembl
rs1282217156
CA387611590
27 G>A No ClinGen
gnomAD
CA6921690
rs761777003
28 T>I No ClinGen
ExAC
gnomAD
rs774674489
CA6921688
32 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 33 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768897502
CA6921687
34 T>K No ClinGen
ExAC
gnomAD
rs999078942
CA247112166
34 T>P No ClinGen
TOPMed
TCGA novel 35 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200532795
CA247112151
35 H>Y No ClinGen
Ensembl
CA247112113
rs371374084
39 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1359504442
CA387611517
39 I>T No ClinGen
TOPMed
CA6921686
rs749462663
39 I>V No ClinGen
ExAC
gnomAD
CA6921683
rs746451096
40 D>E No ClinGen
ExAC
gnomAD
CA6921684
rs376766637
40 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376766637
CA387611515
40 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387611505
rs1470634026
41 S>C No ClinGen
gnomAD
rs1245745552
CA387611509
41 S>P No ClinGen
TOPMed
gnomAD
rs542253884
CA387611504
42 H>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6921682
rs542253884
42 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387611430
rs1356157916
50 H>Y No ClinGen
gnomAD
CA387611422
rs1170917427
51 H>Y No ClinGen
TOPMed
gnomAD
rs1388562103
CA387611407
53 I>V No ClinGen
gnomAD
rs1209501000
CA387611390
55 S>L No ClinGen
TOPMed
rs1023095584
CA387611357
60 A>G No ClinGen
TOPMed
gnomAD
rs1023095584
CA247107715
60 A>V No ClinGen
TOPMed
gnomAD
rs774316319
CA6921670
64 S>Y No ClinGen
ExAC
gnomAD
rs373692629
CA6921669
66 C>G No ClinGen
ESP
ExAC
gnomAD
rs1200951697
CA387611316
67 P>R No ClinGen
TOPMed
rs73168506
CA6921668
69 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1436419448
CA387611285
72 C>G No ClinGen
gnomAD
CA6921667
rs200041102
72 C>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 72 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770198319
CA6921666
77 T>I No ClinGen
ExAC
gnomAD
TCGA novel 80 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921664
rs746194230
81 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA6921663
rs150067703
81 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746194230
CA387611221
81 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6921662
rs747495505
82 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA6921661
rs747495505
82 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA387611209
rs1298619616
83 P>L No ClinGen
TOPMed
gnomAD
rs201847247
CA247107612
83 P>T No ClinGen
Ensembl
CA387611197
rs1434126621
85 E>G No ClinGen
gnomAD
rs374866327
CA6921660
86 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs771706244
CA6921658
87 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs564587516
CA6921655
90 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA6921656
rs144877646
90 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1336139418
CA387611147
92 Y>S No ClinGen
TOPMed
gnomAD
TCGA novel 94 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372326300
CA6921651
97 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372326300
CA6921652
97 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387611108
rs1471838382
98 L>P No ClinGen
gnomAD
rs764224853
CA6921650
100 K>I No ClinGen
ExAC
gnomAD
rs781082038
CA6921632
102 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA387611056
rs1327006185
104 Y>C No ClinGen
gnomAD
CA387611048
rs1452966856
105 E>A No ClinGen
TOPMed
rs758510620
CA6921631
106 D>G No ClinGen
ExAC
gnomAD
CA387611040
rs758510620
106 D>V No ClinGen
ExAC
gnomAD
TCGA novel 106 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387611035
rs1367231010
107 L>F No ClinGen
TOPMed
CA387611036
rs1367231010
107 L>V No ClinGen
TOPMed
TCGA novel 110 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387611007
rs1223956564
111 S>A No ClinGen
TOPMed
gnomAD
rs765308332
CA6921629
115 K>E No ClinGen
ExAC
gnomAD
CA387610971
rs1384113248
116 Q>R No ClinGen
TOPMed
gnomAD
CA6921628
rs201090774
117 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6921626
rs766714211
118 D>G No ClinGen
ExAC
gnomAD
CA6921627
rs758220750
118 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs761102682
CA6921625
119 S>T No ClinGen
ExAC
gnomAD
CA387610939
rs1177768356
121 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1177768356
CA387610940
121 R>G No ClinGen
TOPMed
gnomAD
rs772738962
CA6921624
121 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs772738962
CA6921623
121 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA387610918
rs1278455877
125 W>R No ClinGen
TOPMed
gnomAD
rs762361830
CA6921622
128 I>F No ClinGen
ExAC
gnomAD
rs1490955170
CA387610889
129 D>N No ClinGen
TOPMed
rs34885345
VAR_057143
CA6921619
131 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6921617
COSM550970
rs769522305
134 Y>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6921616
rs745628437
135 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA387610840
rs1204188317
136 R>G No ClinGen
gnomAD
rs1254054279
CA387610827
137 M>I No ClinGen
TOPMed
gnomAD
CA6921615
rs780920630
137 M>T No ClinGen
ExAC
gnomAD
TCGA novel 138 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387610816
rs1156826863
139 V>G No ClinGen
TOPMed
rs746884993
CA6921613
CA6921614
139 V>L No ClinGen
ExAC
gnomAD
CA387610813
rs1308303531
140 P>S No ClinGen
gnomAD
rs755074192
CA6921611
141 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs755074192
CA6921612
141 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA387610797
rs1302290106
143 H>N No ClinGen
TOPMed
CA6921609
rs766594014
143 H>R No ClinGen
ExAC
gnomAD
rs756366833
CA6921608
145 Q>L No ClinGen
ExAC
gnomAD
rs78343284
CA247106191
146 L>V No ClinGen
TOPMed
CA6921607
rs750840801
147 S>C No ClinGen
ExAC
gnomAD
rs201602182
CA6921606
148 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA6921605
rs142949277
150 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA247106173
rs142949277
150 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 150 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs116067614
CA247106133
151 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs116067614
CA6921603
151 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774917676
CA6921604
151 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs775042821
CA6921601
152 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs201338283
CA247106115
153 Y>* No ClinGen
TOPMed
CA247106119
rs992398069
153 Y>H No ClinGen
TOPMed
CA387610728
rs1206914919
154 K>E No ClinGen
TOPMed
rs1441803143
CA387610726
154 K>T No ClinGen
gnomAD
CA387610709
rs1415062972
155 I>F No ClinGen
gnomAD
rs757680773
CA6921585
155 I>T No ClinGen
ExAC
gnomAD
CA6921583
rs764628576
156 C>G No ClinGen
ExAC
gnomAD
CA6921582
rs763327021
159 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs775083393
CA6921581
161 R>G No ClinGen
ExAC
gnomAD
CA387610659
rs1354333789
162 E>D No ClinGen
gnomAD
CA387610656
rs1281825017
163 L>V No ClinGen
gnomAD
rs1418461139
CA387610650
164 Y>H No ClinGen
TOPMed
rs1240365931
CA387610638
165 V>G No ClinGen
gnomAD
CA387610634
rs1350356028
166 P>H No ClinGen
gnomAD
rs759255438
CA6921579
167 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1008845745
CA247105887
167 R>W No ClinGen
TOPMed
gnomAD
rs1407077283
CA387610623
168 I>M No ClinGen
gnomAD
rs765129815
CA6921577
168 I>V No ClinGen
TOPMed
gnomAD
rs893651931
CA247105865
175 V>G No ClinGen
TOPMed
CA6921576
rs776255478
177 S>R No ClinGen
ExAC
gnomAD
rs1404313743
CA387610557
178 S>C No ClinGen
gnomAD
TCGA novel 179 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760490843
CA6921574
181 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6921575
rs770766364
181 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA387610524
rs1271151050
183 K>N No ClinGen
TOPMed
rs567451807
CA6921573
183 K>R No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 185 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921572
rs772069465
186 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1179751603
CA387610500
187 P>S No ClinGen
gnomAD
rs553822893
CA6921571
188 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs999283486
CA247105852
188 V>L No ClinGen
TOPMed
gnomAD
rs780287250
CA6921570
189 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs769988246
CA6921569
192 Y>C No ClinGen
ExAC
gnomAD
rs746149245
CA6921568
193 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA387610454
rs1329083341
194 Q>P No ClinGen
TOPMed
gnomAD
CA6921567
rs146343671
195 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142057652
CA6921565
197 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1463523432
CA387610409
199 A>T No ClinGen
TOPMed
rs745911676
CA6921550
199 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs781377017
CA6921549
202 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387610387
rs1363792767
202 R>Q No ClinGen
gnomAD
CA387610385
rs1456705003
203 C>R No ClinGen
TOPMed
TCGA novel 204 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778201758
CA6921546
206 P>S No ClinGen
ExAC
gnomAD
rs1267018881
CA387610346
208 S>C No ClinGen
TOPMed
CA387610347
rs1267018881
208 S>Y No ClinGen
TOPMed
rs755442387
CA6921542
219 H>L No ClinGen
ExAC
gnomAD
CA6921541
rs753369899
219 H>Q No ClinGen
ExAC
gnomAD
CA387610253
rs1462175660
222 Q>K No ClinGen
gnomAD
rs750041243
CA6921538
224 I>V No ClinGen
ExAC
gnomAD
CA387610232
rs1439904367
225 S>G No ClinGen
gnomAD
CA387610231
rs1439904367
225 S>R No ClinGen
gnomAD
TCGA novel 227 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921537
rs767403256
228 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6921536
rs149526134
229 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387610203
rs149526134
229 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1294814759
CA387610193
231 N>H No ClinGen
gnomAD
CA387610183
rs1247448479
232 R>C No ClinGen
gnomAD
rs565072549
CA6921534
232 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA387610176
rs1283515416
233 Y>C No ClinGen
gnomAD
CA6921532
rs141278425
236 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387610155
rs141278425
236 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1429371845
CA387610144
237 M>I No ClinGen
gnomAD
CA6921530
rs747320057
237 M>T No ClinGen
ExAC
gnomAD
rs138843894
CA6921531
237 M>V No ClinGen
ESP
ExAC
TOPMed
rs773288042
CA6921529
238 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 245 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs188749833
CA6921502
246 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1303791833
CA387609469
248 N>S No ClinGen
gnomAD
rs1465801628
CA387609455
250 A>V No ClinGen
gnomAD
CA247100010
rs949294462
253 K>N No ClinGen
TOPMed
rs1376772961
CA387609434
254 G>S No ClinGen
TOPMed
gnomAD
CA387609429
rs1173511061
254 G>V No ClinGen
gnomAD
rs1187342106
CA387609398
258 E>D No ClinGen
gnomAD
rs1452837606
CA387609390
259 D>E No ClinGen
TOPMed
CA387609393
rs1447590175
259 D>G No ClinGen
gnomAD
CA6921500
rs745400437
260 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA387609383
COSM3793220
rs1430653449
260 N>K Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs745400437
CA6921499
260 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA247099997
rs916475978
261 Y>C No ClinGen
TOPMed
rs780703365
CA6921498
264 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1365899712
CA387609350
265 R>S No ClinGen
TOPMed
CA247099983
rs990707587
268 F>S No ClinGen
TOPMed
gnomAD
rs749423542
CA6921497
269 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 270 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 270 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921496
rs751186788
271 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs758251074
CA6921494
272 E>K No ClinGen
ExAC
gnomAD
TCGA novel 274 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752725814
CA247099945
275 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA6921493
rs752725814
275 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs759473296
CA6921491
277 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs113245616
CA247099904
279 S>P No ClinGen
Ensembl
CA387609238
rs1344847065
282 Q>* No ClinGen
TOPMed
TCGA novel 282 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762090917
CA6921489
284 L>I No ClinGen
ExAC
gnomAD
CA6921468
rs191265745
288 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1439448306
CA387609121
289 G>V No ClinGen
TOPMed
rs764329479
CA6921467
296 N>S No ClinGen
ExAC
gnomAD
CA6921466
rs377589798
299 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1232068281
CA387608920
300 S>P No ClinGen
TOPMed
CA387608897
rs1593144654
301 G>A No ClinGen
Ensembl
COSM75480
CA6921464
rs770125533
301 G>S ovary Variant assessed as Somatic; 0.0 impact. stomach [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6921463
rs760023881
303 E>K No ClinGen
ExAC
gnomAD
CA387608856
rs1443506247
304 S>G No ClinGen
TOPMed
rs777179785
CA6921462
305 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs777372172
CA6921459
306 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA387608808
rs1328876968
309 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA6921458
rs371573306
309 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747774717
CA6921457
310 H>R No ClinGen
ExAC
gnomAD
CA387608750
rs1593144607
312 K>E No ClinGen
Ensembl
CA247099373
rs966964390
313 A>P No ClinGen
Ensembl
rs754789122
CA6921455
314 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs199560173
CA6921456
314 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA6921452
rs756002800
315 M>T No ClinGen
ExAC
CA6921453
rs779937002
315 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA387608670
rs1457607425
316 D>G No ClinGen
gnomAD
CA6921451
rs751659945
318 A>T No ClinGen
ExAC
gnomAD
CA387608613
rs1593144564
319 I>S No ClinGen
Ensembl
CA6921450
rs7995033
VAR_024583
319 I>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765574877
CA6921447
323 K>R No ClinGen
ExAC
gnomAD
CA387608442
rs758487623
325 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs752908419
CA6921428
325 I>M No ClinGen
ExAC
gnomAD
rs758487623
CA6921429
325 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1449402742
CA387608433
326 T>I No ClinGen
gnomAD
CA6921427
rs765465503
328 E>A No ClinGen
ExAC
gnomAD
TCGA novel 330 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755109750
CA6921426
331 S>G No ClinGen
ExAC
rs754271350
CA6921425
331 S>N No ClinGen
ExAC
gnomAD
CA387608401
rs1443344746
331 S>R No ClinGen
gnomAD
CA387608397
rs1199504348
332 V>G No ClinGen
gnomAD
rs766786838
CA6921424
332 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1299726189
CA387608392
333 L>* No ClinGen
TOPMed
rs773843434
CA387608377
335 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA6921422
rs773843434
335 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs773843434
CA387608378
335 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1228406646
CA387608369
336 C>F No ClinGen
gnomAD
rs1384493319
CA387608360
338 D>N No ClinGen
TOPMed
rs1340825416
CA387608337
341 D>Y No ClinGen
gnomAD
CA387608319
rs1396906465
343 T>N No ClinGen
gnomAD
rs1396906465
CA387608318
343 T>S No ClinGen
gnomAD
CA387608312
rs1311363852
344 S>C No ClinGen
TOPMed
TCGA novel
CA6921418
rs768375071
345 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs201046935
CA6921419
345 Q>P No ClinGen
1000Genomes
ExAC
gnomAD
rs367847671
CA6921416
349 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6921415
rs769573063
355 D>N No ClinGen
ExAC
gnomAD
CA387608234
rs1253531377
357 Y>H No ClinGen
TOPMed
rs745859352
CA6921414
358 Y>C No ClinGen
ExAC
gnomAD
CA247098935
rs145423282
359 R>G No ClinGen
ESP
TOPMed
rs781082057
CA6921413
359 R>K No ClinGen
ExAC
gnomAD
CA387608214
rs1301554414
360 T>A No ClinGen
gnomAD
CA387608200
rs1185815005
362 K>E No ClinGen
gnomAD
rs778804235
CA6921410
362 K>I No ClinGen
ExAC
gnomAD
CA6921411
rs778804235
362 K>T No ClinGen
ExAC
gnomAD
rs75005059
CA6921409
365 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1163239794
CA387607656
367 L>S No ClinGen
gnomAD
rs763445618
CA6921400
368 I>M No ClinGen
ExAC
gnomAD
TCGA novel 370 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA247097141
rs724159943
COSM142824
372 W>C skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1253580631
CA387607614
373 I>L No ClinGen
gnomAD
CA387607608
rs1182425109
373 I>M No ClinGen
gnomAD
rs762660393
CA6921399
374 S>A No ClinGen
ExAC
gnomAD
CA247097130
rs1031846467
375 F>S No ClinGen
Ensembl
rs775107085
CA6921398
378 K>E No ClinGen
ExAC
gnomAD
TCGA novel 380 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921375
rs759133059
384 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs546355191
CA247096830
387 D>V No ClinGen
1000Genomes
rs1303659495
CA387607491
389 D>Y No ClinGen
gnomAD
CA6921374
rs577631883
391 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs770628146
CA6921373
392 E>K No ClinGen
ExAC
gnomAD
CA6921371
rs773005544
393 V>G No ClinGen
ExAC
gnomAD
CA6921372
rs760724524
393 V>I No ClinGen
ExAC
CA387607448
rs1483124155
396 V>L No ClinGen
gnomAD
rs1593142187
CA387607414
400 F>L No ClinGen
Ensembl
TCGA novel 402 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387607404
rs1253325956
402 E>Q No ClinGen
gnomAD
rs887050329
CA247096798
403 C>G No ClinGen
Ensembl
CA6921370
rs150032485
405 W>* No ClinGen
ESP
ExAC
gnomAD
TCGA novel 406 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387607313
rs749413375
407 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs775665301
CA6921368
408 T>S No ClinGen
ExAC
gnomAD
rs139661960
CA6921367
409 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA387607258
rs1198305928
410 Q>R No ClinGen
TOPMed
rs1040112845
CA247096753
411 F>L No ClinGen
TOPMed
rs1246015107
CA387607223
412 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs781666060
CA6921365
413 Q>R No ClinGen
ExAC
gnomAD
rs79053319
CA6921364
414 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA247096722
rs79053319
414 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387607141
rs1248506193
417 F>I No ClinGen
gnomAD
CA6921363
rs747599856
418 S>R No ClinGen
ExAC
gnomAD
rs1484753778
CA387607086
420 A>P No ClinGen
gnomAD
CA387607077
rs1258038397
420 A>V No ClinGen
gnomAD
rs778111295
CA6921362
COSM432246
423 L>F Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA387607054
rs1566034932
423 L>R No ClinGen
Ensembl
rs868801491
CA247096719
424 Q>H No ClinGen
Ensembl
CA387607030
rs1195654020
426 H>L No ClinGen
TOPMed
rs568415307
CA247096711
427 E>K No ClinGen
1000Genomes
CA247096685
rs1049973322
429 I>T No ClinGen
TOPMed
rs1311260899
CA387606922
432 C>F No ClinGen
gnomAD
CA387606930
rs1230631567
432 C>S No ClinGen
gnomAD
rs1044879824
COSM1300099
CA247096679
433 Q>R Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
TCGA novel 434 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA387606877
rs1453813241
434 F>S No ClinGen
TOPMed
rs1366639942
CA387606847
436 N>D No ClinGen
gnomAD
rs764662535
CA6921359
438 L>P No ClinGen
ExAC
gnomAD
rs754693450
CA6921358
441 C>Y No ClinGen
ExAC
gnomAD
CA6921357
rs755003740
443 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA387606657
rs1466258370
446 E>G No ClinGen
gnomAD
CA247096659
rs866722196
449 K>R No ClinGen
TOPMed
gnomAD
rs774413920
CA6921329
451 K>E No ClinGen
ExAC
gnomAD
CA247095554
rs770216169
452 E>A No ClinGen
Ensembl
rs1333109750
CA387606345
454 T>A No ClinGen
gnomAD
CA6921326
rs776731789
460 F>V No ClinGen
ExAC
gnomAD
CA247095503
rs138289796
COSM110035
461 L>F skin [Cosmic] No ClinGen
cosmic curated
Ensembl
CA247095498
rs76317728
462 L>F No ClinGen
ESP
TOPMed
rs771079522
CA6921323
463 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1210536179
CA387606281
464 D>N No ClinGen
TOPMed
rs1000771043
CA387606273
465 Q>E No ClinGen
TOPMed
CA247095495
rs1000771043
465 Q>K No ClinGen
TOPMed
rs760892112
CA6921322
468 Y>H No ClinGen
ExAC
gnomAD
rs1392882373
CA387606233
470 N>Y No ClinGen
gnomAD
rs772413591
CA6921320
472 L>F No ClinGen
ExAC
gnomAD
rs772413591
CA6921321
472 L>V No ClinGen
ExAC
gnomAD
rs748703971
CA6921319
474 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA6921315
rs779561417
476 E>D No ClinGen
ExAC
gnomAD
rs370493335
CA6921316
476 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6921314
rs755729166
477 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs201709535
CA6921312
479 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs898703950
CA247095410
479 R>S No ClinGen
gnomAD
CA387606155
rs1467496727
482 V>D No ClinGen
gnomAD
rs764158169
CA6921309
484 E>G No ClinGen
ExAC
gnomAD
CA247095387
rs113373326
485 P>L No ClinGen
Ensembl
CA6921308
rs762898535
485 P>S No ClinGen
ExAC
gnomAD
rs1177235355
CA387606117
488 V>G No ClinGen
TOPMed
CA387606111
rs1464743769
489 S>Y No ClinGen
TOPMed
CA6921306
rs766414006
490 F>L No ClinGen
ExAC
gnomAD
CA247095368
rs1050317428
492 F>I No ClinGen
TOPMed
gnomAD
CA387606082
rs1392113973
493 K>R No ClinGen
gnomAD
CA387606054
rs1593140769
495 W>* No ClinGen
Ensembl
rs1246795398
CA387606058
495 W>G No ClinGen
TOPMed
TCGA novel 498 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921289
rs536417177
498 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1593140766
CA387606016
500 H>R No ClinGen
Ensembl
rs766419466
CA6921288
501 Q>* No ClinGen
ExAC
gnomAD
CA387606006
rs4312169
501 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1299724359
CA387606000
502 F>C No ClinGen
TOPMed
gnomAD
rs1299724359
CA387606001
502 F>S No ClinGen
TOPMed
gnomAD
rs750462481
CA6921286
504 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA387605989
rs750462481
504 R>G No ClinGen
ExAC
gnomAD
rs923591431
CA247095114
504 R>Q No ClinGen
TOPMed
gnomAD
CA6921284
rs761969841
511 S>C No ClinGen
ExAC
gnomAD
TCGA novel 511 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 512 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774706545
CA6921283
513 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1432941602
CA387605869
514 N>I No ClinGen
gnomAD
rs767779503
CA6921282
515 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA6921281
rs763425454
516 I>T No ClinGen
ExAC
gnomAD
CA387605799
rs1475348458
519 M>T No ClinGen
gnomAD
CA6921280
rs376021333
522 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1443797848
CA387605724
523 N>K No ClinGen
gnomAD
CA6921278
CA6921277
rs144582137
525 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1209610157
CA387605705
525 Q>K No ClinGen
TOPMed
gnomAD
rs1215110238
CA387605665
528 K>E No ClinGen
gnomAD
CA387605648
rs1338593917
529 D>V No ClinGen
gnomAD
CA387605597
rs1392892050
532 D>V No ClinGen
TOPMed
CA387605583
rs1593140671
534 E>Q No ClinGen
Ensembl
rs1566033462
CA387605389
537 I>T No ClinGen
Ensembl
CA387605395
rs1352483570
537 I>V No ClinGen
gnomAD
CA6921258
rs776283308
538 K>R No ClinGen
ExAC
gnomAD
CA387605376
rs776283308
538 K>T No ClinGen
ExAC
gnomAD
rs549090116
CA6921257
539 Q>K No ClinGen
1000Genomes
ExAC
CA387605360
rs1353339690
539 Q>L No ClinGen
gnomAD
CA6921256
rs373314805
540 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6921255
COSM1477162
rs772892485
540 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA387605347
rs1270615754
541 K>E No ClinGen
gnomAD
rs1394234742
CA387605329
542 N>D No ClinGen
gnomAD
CA387605300
rs1163176147
543 K>N No ClinGen
gnomAD
CA387605290
rs1474028783
544 Q>R No ClinGen
TOPMed
gnomAD
CA387605266
rs1177345644
546 D>E No ClinGen
gnomAD
CA6921254
rs771584492
546 D>G No ClinGen
ExAC
gnomAD
rs778518214
CA6921253
COSM271401
547 G>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778518214
CA6921252
547 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1468824974
CA387605207
552 E>* No ClinGen
gnomAD
rs529419867
CA6921249
555 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1307975343
CA387605137
557 V>F No ClinGen
gnomAD
CA387605120
rs1223333509
558 H>R No ClinGen
gnomAD
CA6921248
rs768588132
559 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA387605092
rs1370832915
560 E>G No ClinGen
gnomAD
CA387605055
rs1275506895
563 N>T No ClinGen
TOPMed
gnomAD
CA6921246
rs764403960
563 N>Y No ClinGen
ExAC
gnomAD
CA6921245
rs758497194
565 K>R No ClinGen
ExAC
gnomAD
CA6921244
rs369551344
566 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765631183
CA6921243
567 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA387604973
rs1329576224
569 C>Y No ClinGen
TOPMed
gnomAD
rs1241902796
CA387604929
573 Q>* No ClinGen
TOPMed
TCGA novel 573 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921241
rs754381818
577 P>S No ClinGen
ExAC
gnomAD
CA6921238
rs772548446
578 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1191590525
CA387604885
580 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 580 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921236
rs761308981
581 A>D No ClinGen
ExAC
gnomAD
rs771773145
CA6921237
581 A>T No ClinGen
ExAC
gnomAD
CA6921235
rs774272200
582 L>F No ClinGen
ExAC
gnomAD
rs1280832493
CA387604871
583 R>* No ClinGen
gnomAD
rs914138599
CA247093546
584 T>A No ClinGen
Ensembl
TCGA novel 584 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1370994618
CA387604864
584 T>S No ClinGen
gnomAD
CA6921233
rs749269264
585 I>L No ClinGen
ExAC
gnomAD
CA6921232
rs779932849
585 I>T No ClinGen
ExAC
gnomAD
rs749269264
CA6921234
585 I>V No ClinGen
ExAC
gnomAD
CA6921230
rs747131886
589 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA6921229
rs149329660
590 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755364028
CA6921225
591 A>V No ClinGen
ExAC
gnomAD
CA387604807
rs1400029494
593 N>S No ClinGen
TOPMed
gnomAD
CA6921224
rs544564911
594 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145967757
CA6921222
596 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376742718
CA247093476
596 S>R No ClinGen
ESP
TOPMed
rs62619824
CA6921221
599 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs62619824
CA6921220
599 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA387604708
rs1259869058
607 P>L No ClinGen
gnomAD
rs761588107
CA6921217
607 P>S No ClinGen
ExAC
gnomAD
CA387604699
rs1211735436
609 V>L No ClinGen
gnomAD
rs1211735436
CA387604700
609 V>M No ClinGen
gnomAD
CA247093445
rs201631122
610 V>I No ClinGen
1000Genomes
TOPMed
gnomAD
CA387604688
rs1323494607
611 S>C No ClinGen
TOPMed
rs1278220908
CA387604680
612 L>* No ClinGen
gnomAD
TCGA novel 613 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371735160
CA6921216
615 G>D No ClinGen
ESP
ExAC
gnomAD
TCGA novel 618 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6921215
rs768476319
619 M>L No ClinGen
ExAC
gnomAD
rs1295319964
CA387604614
621 C>* No ClinGen
gnomAD

No associated diseases with Q9Y217

1 regional properties for Q9Y217

Type Name Position InterPro Accession
domain Transcription factor CBF/NF-Y/archaeal histone domain 9 - 73 IPR003958

Functions

Description
EC Number 3.1.3.64 Phosphoric monoester hydrolases
Subcellular Localization
  • Cytoplasm
  • Endoplasmic reticulum-Golgi intermediate compartment
  • Endoplasmic reticulum
  • Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side
  • Cytoplasm, perinuclear region
  • Localizes to ruffles during EGF-induced macropinocytosis (By similarity)
  • Colocalizes with MTMR9 to the perinuclear region (PubMed:19038970)
  • Partially localizes to the endoplasmic reticulum (PubMed:19038970)
  • Co-localizes with RAB1B to the endoplasmic reticulum-Golgi intermediate compartment and to the peri-Golgi region (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum-Golgi intermediate compartment A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.
nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
ruffle membrane The portion of the plasma membrane surrounding a ruffle.

5 GO annotations of molecular function

Name Definition
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+.
phosphatidylinositol-3,5-bisphosphate phosphatase activity Catalysis of the reaction: 1-phosphatidyl-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol phosphate + phosphate.
phosphatidylinositol-3-phosphatase activity Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + 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 phosphatase activity Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

4 GO annotations of biological process

Name Definition
endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
phosphatidylinositol biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol dephosphorylation The process of removing one or more phosphate groups from a phosphatidylinositol.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q5F452 MTMR8 Myotubularin-related protein 8 Gallus gallus (Chicken) PR
Q86WG5 SBF2 Myotubularin-related protein 13 Homo sapiens (Human) PR
O95248 SBF1 Myotubularin-related protein 5 Homo sapiens (Human) PR
Q13613 MTMR1 Myotubularin-related protein 1 Homo sapiens (Human) PR
Q13496 MTM1 Myotubularin Homo sapiens (Human) PR
Q13614 MTMR2 Myotubularin-related protein 2 Homo sapiens (Human) PR
Q96QG7 MTMR9 Myotubularin-related protein 9 Homo sapiens (Human) PR
Q9Y216 MTMR7 Myotubularin-related protein 7 Homo sapiens (Human) PR
Q9Z2C9 Mtmr7 Myotubularin-related protein 7 Mus musculus (Mouse) PR
A2BGG1 mtmr12 Myotubularin-related protein 12 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEHIRTTKVE QVKLLDRFST SNKSLTGTLY LTATHLLFID SHQKETWILH HHIASVEKLA
70 80 90 100 110 120
LTTSGCPLVI QCKNFRTVHF IVPRERDCHD IYNSLLQLSK QAKYEDLYAF SYNPKQNDSE
130 140 150 160 170 180
RLQGWQLIDL AEEYKRMGVP NSHWQLSDAN RDYKICETYP RELYVPRIAS KPIIVGSSKF
190 200 210 220 230 240
RSKGRFPVLS YYHQDKEAAI CRCSQPLSGF SARCLEDEHL LQAISKANPV NRYMYVMDTR
250 260 270 280 290 300
PKLNAMANRA AGKGYENEDN YSNIRFQFVG IENIHVMRSS LQKLLEVNGT KGLSVNDFYS
310 320 330 340 350 360
GLESSGWLRH IKAVMDAAIF LAKAITVENA SVLVHCSDGW DRTSQVCSLG SLLLDSYYRT
370 380 390 400 410 420
IKGFMVLIEK DWISFGHKFS ERCGQLDGDP KEVSPVFTQF LECVWHLTEQ FPQAFEFSEA
430 440 450 460 470 480
FLLQIHEHIH SCQFGNFLGN CQKEREELKL KEKTYSLWPF LLEDQKKYLN PLYSSESHRF
490 500 510 520 530 540
TVLEPNTVSF NFKFWRNMYH QFDRTLHPRQ SVFNIIMNMN EQNKQLEKDI KDLESKIKQR
550 560 570 580 590 600
KNKQTDGILT KELLHSVHPE SPNLKTSLCF KEQTLLPVND ALRTIEGSSP ADNRYSEYAE
610 620
EFSKSEPAVV SLEYGVARMT C