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

4 structures for P05023

Entry ID Method Resolution Chain Position Source
7E1Z EM 320 A A 1-1023 PDB
7E20 EM 270 A A 1-1023 PDB
7E21 EM 290 A A 1-1023 PDB
AF-P05023-F1 Predicted AlphaFoldDB

358 variants for P05023

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_081039
RCV001092891
rs1553190285
RCV000656712
CA341840480
48 L>R Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; no effect on Na(+)-dependent currents [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs724160008
RCV000149850
100 F>missing Aldosterone-producing adrenal cortex adenoma [ClinVar] Yes ClinVar
dbSNP
CA211218
rs11540945
RCV000149851
104 L>R Aldosterone-producing adrenal cortex adenoma [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs193920762
COSM1178562
CA174297
RCV000149075
155 S>L Malignant tumor of prostate prostate [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
Ensembl
dbSNP
CA341843960
rs1557785499
RCV000754797
302 L>P Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_081937 302 L>R HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat variant [UniProt] Yes UniProt
RCV000754798
rs1557785503
CA341843963
VAR_081938
303 G>R Hypomagnesemia, seizures, and intellectual disability 2 HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat variant [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs724160010
CA211223
RCV000149853
332 V>G Variant assessed as Somatic; impact. Aldosterone-producing adrenal cortex adenoma [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
rs1401759980
RCV000850471
CA341844195
333 P>R Marfanoid habitus and intellectual disability [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
VAR_081040
rs1553192086
CA341771587
RCV000656715
RCV001855351
592 I>T Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_081041 597 A>T CMT2DD; unknown pathological significance [UniProt] Yes UniProt
VAR_081042
RCV000656713
rs1553192091
CA341771634
600 P>A Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; shows fewer Na(+)-dependent currents than wild-type protein [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1553192091
RCV000656714
RCV002534251
CA341771633
VAR_081043
600 P>T Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; unknown pathological significance [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
VAR_081044 601 D>F CMT2DD; unknown pathological significance; requires 2 nucleotide substitutions [UniProt] Yes UniProt
rs1652955697
RCV001280844
622 I>M Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] Yes ClinVar
dbSNP
CA341772440
rs1570973191
RCV000850440
674 T>S Marfanoid habitus and intellectual disability [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000656716
CA341773876
VAR_081045
rs1553192783
811 D>A Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; shows fewer Na(+)-dependent currents than wild-type protein [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
RCV001331357
rs1653241392
RCV001800984
844 L>P Charcot-marie-tooth disease, axonal, type 2DD Intellectual disability [ClinVar] Yes ClinVar
dbSNP
RCV001198395
rs1436880886
CA341774326
848 R>W Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs781629728
CA341774769
VAR_081939
RCV000754799
859 M>R Hypomagnesemia, seizures, and intellectual disability 2 HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat variant [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ExAC
dbSNP
gnomAD
CA341775664
rs1570980551
RCV000845571
931 W>R Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1653448255
RCV001290135
937 C>missing Charcot-marie-tooth disease, axonal, type 2DD [ClinVar] Yes ClinVar
dbSNP
rs976510541
CA30059094
3 K>R No ClinGen
Ensembl
CA341838785
rs1307008508
4 G>R No ClinGen
TOPMed
rs780694923
CA1025000
5 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs756724088
CA1024999
5 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA341840172
rs1429384765
7 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs146195513
CA30066711
7 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs146195513
CA341840174
7 R>L No ClinGen
ESP
TOPMed
gnomAD
rs146195513
CA341840173
7 R>P No ClinGen
ESP
TOPMed
gnomAD
rs1429384765
CA341840170
7 R>S No ClinGen
gnomAD
CA341840177
rs1218878696
8 D>G No ClinGen
gnomAD
rs745357199
CA1025001
8 D>H No ClinGen
ExAC
gnomAD
CA1025002
rs769191909
9 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA916269869
rs1557781915
15 V>G No ClinGen
Ensembl
rs1557781926
CA916269870
16 S>* No ClinGen
Ensembl
CA30066721
rs111860221
16 S>P No ClinGen
gnomAD
CA341840229
rs111860221
16 S>T No ClinGen
gnomAD
CA341840252
rs1446413621
19 G>C No ClinGen
gnomAD
CA30066736
rs11540944
20 D>H No ClinGen
Ensembl
rs772388569
CA1025007
23 G>D No ClinGen
ExAC
gnomAD
TCGA novel 25 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30066740
rs906254720
27 K>Q No ClinGen
TOPMed
gnomAD
CA30066742
rs985672025
27 K>R No ClinGen
Ensembl
CA341840361
rs1245475227
34 E>K No ClinGen
TOPMed
TCGA novel 38 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341840411
rs1384870128
41 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA341840446
rs1354383018
43 D>E No ClinGen
gnomAD
CA341840440
rs1217480321
43 D>N No ClinGen
gnomAD
CA30067213
rs12564026
VAR_048374
47 S>I No ClinGen
UniProt
Ensembl
dbSNP
CA30067216
rs200260779
47 S>R No ClinGen
Ensembl
CA1025030
rs778261406
49 D>H No ClinGen
ExAC
gnomAD
rs1386911088
CA341840490
50 E>Q No ClinGen
TOPMed
CA341840505
rs1347327000
52 H>Y No ClinGen
gnomAD
CA1025031
rs747334872
53 R>C No ClinGen
ExAC
gnomAD
CA341840513
rs369738549
53 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1025032
rs369738549
53 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755576753
CA1025034
61 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 61 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158326714
CA341840714
64 T>R No ClinGen
gnomAD
CA30068890
rs923288032
66 A>V No ClinGen
Ensembl
rs764680790
CA1025072
67 R>C No ClinGen
ExAC
gnomAD
COSM243113
CA341840751
rs1159387961
67 R>H prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA341840769
rs1286662752
68 A>V No ClinGen
TOPMed
CA1025073
rs751968061
73 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1025076
rs564786229
74 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA341840854
rs1305466076
75 D>N No ClinGen
gnomAD
rs1421893391
CA341840906
78 N>S No ClinGen
gnomAD
rs1004452127
CA30068901
79 A>T No ClinGen
TOPMed
gnomAD
CA30068927
rs958115046
81 T>A No ClinGen
TOPMed
rs974563697
CA30068931
81 T>S No ClinGen
TOPMed
rs1346636921
CA341840975
83 P>R No ClinGen
gnomAD
CA341840967
rs1455656263
83 P>S No ClinGen
TOPMed
CA30068939
rs921800708
85 T>S No ClinGen
TOPMed
rs780391814
CA1025078
86 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA1025079
rs749401049
87 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA341841022
rs749401049
87 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA1025083
rs145341046
94 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341841154
rs1159259511
94 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA341841180
rs1412944529
95 Q>R No ClinGen
gnomAD
CA1025085
rs760427027
98 G>R No ClinGen
ExAC
gnomAD
rs1570953900
CA341841260
100 F>V No ClinGen
Ensembl
rs1360019202 100 F>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA341841288
rs764588242
102 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs764588242
CA1025089
102 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA341841438
rs1312465041
113 L>F No ClinGen
TOPMed
gnomAD
CA341841465
rs1255922024
116 S>C No ClinGen
gnomAD
rs756497821
CA1025094
124 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA341841545
rs1179203009
124 E>G No ClinGen
gnomAD
CA341841591
rs1193050533
128 D>N No ClinGen
gnomAD
rs773814995
CA1025110
131 Y>C No ClinGen
ExAC
gnomAD
rs761125134
CA1025111
135 V>G No ClinGen
ExAC
gnomAD
rs1483586374
CA341842210
141 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 144 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755220071
CA1025114
149 Y>C No ClinGen
ExAC
gnomAD
rs1398962674
CA341842265
149 Y>N No ClinGen
gnomAD
TCGA novel 160 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 163 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 176 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1476953195
CA341842504
180 I>V No ClinGen
TOPMed
rs139745455
CA1025143
182 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA341842574
rs1280983367
190 L>Q No ClinGen
gnomAD
CA1025146
rs747627862
190 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs777143274
CA1025148
193 V>I No ClinGen
ExAC
gnomAD
CA30069731
rs145790737
194 K>N No ClinGen
ESP
TOPMed
rs759845712
CA1025149
198 R>* No ClinGen
ExAC
gnomAD
rs1444488629
CA341842645
202 D>H No ClinGen
gnomAD
CA341842654
rs1311490781
203 L>F No ClinGen
gnomAD
CA1025150
rs770133739
205 I>V No ClinGen
ExAC
gnomAD
CA341842672
rs1232676566
206 I>V No ClinGen
gnomAD
CA1025151
rs775593117
208 A>S No ClinGen
ExAC
gnomAD
rs1347486125
CA341842688
208 A>V No ClinGen
gnomAD
rs1264667039
CA341842753
216 S>A No ClinGen
gnomAD
CA341842764
rs1452922227
217 S>L No ClinGen
gnomAD
CA30069853
rs992887190
226 T>P No ClinGen
Ensembl
CA341842902
rs1424170832
233 N>T No ClinGen
gnomAD
CA1025169
rs775902817
234 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA341843018
rs1387469739
240 R>G No ClinGen
gnomAD
CA1025172
rs202098437
240 R>T No ClinGen
1000Genomes
ExAC
CA30069877
rs917361832
244 F>Y No ClinGen
TOPMed
CA1025174
rs767575185
247 T>A No ClinGen
ExAC
gnomAD
RCV001317016
rs1652274501
248 N>S No ClinVar
dbSNP
CA341843196
rs1321578905
250 V>I No ClinGen
gnomAD
CA341843369
rs1263162539
254 A>T No ClinGen
TOPMed
rs759405523
CA1025196
255 R>C No ClinGen
ExAC
gnomAD
CA341843391
rs1258171077
255 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA30070107
rs1036506727
260 Y>F No ClinGen
Ensembl
rs1328025079
CA341843541
264 R>C No ClinGen
TOPMed
CA1025197
rs765069962
264 R>H Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866032260
CA30070134
277 L>P No ClinGen
Ensembl
rs752531768
CA1025198
278 E>A No ClinGen
ExAC
gnomAD
TCGA novel 294 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30070143
rs866444285
297 G>C No ClinGen
Ensembl
rs77346051
CA1025202
300 V>G No ClinGen
ExAC
gnomAD
TCGA novel 302 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1471033105
CA341843966
303 G>A No ClinGen
TOPMed
rs200841398
CA30070172
304 V>A No ClinGen
1000Genomes
rs930844243
CA30070173
308 I>S No ClinGen
Ensembl
CA341844033
rs1307241673
314 E>Q No ClinGen
gnomAD
rs779317338
CA1025207
326 G>S No ClinGen
ExAC
gnomAD
CA1025209
rs772383915
329 V>L No ClinGen
ExAC
gnomAD
CA341844196
rs1401759980
333 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA1025214
rs759607882
341 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341844269
rs1426324449
343 C>F No ClinGen
gnomAD
CA30070521
rs11540957
346 L>F No ClinGen
Ensembl
CA341844301
rs1348829568
349 K>E No ClinGen
gnomAD
rs747138813
CA1025230
350 R>C No ClinGen
ExAC
gnomAD
CA341844317
rs1477922183
351 M>T No ClinGen
TOPMed
gnomAD
rs771268719
CA1025231
353 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 355 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 370 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341844508
rs1289108099
379 G>R No ClinGen
gnomAD
CA341844548
rs1269859843
COSM3417923
385 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM73775
CA1025235
rs775243249
385 R>W ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341844587
rs1252478023
391 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1025240
rs138556439
395 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 397 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA30070574
rs112808861
397 I>V No ClinGen
gnomAD
CA341844657
rs1403085659
400 A>T No ClinGen
gnomAD
CA341844676
rs1165006226
402 T>M No ClinGen
gnomAD
rs1246192772
CA341844695
405 N>S No ClinGen
TOPMed
CA341844705
rs1296073565
406 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA341844732
rs1238127035
408 G>V No ClinGen
gnomAD
CA341844765
rs1351759100
413 K>R No ClinGen
gnomAD
rs372871986
CA1025266
416 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs891256379
CA30070932
417 T>A No ClinGen
Ensembl
rs911157867
CA30070936
417 T>I No ClinGen
TOPMed
CA341844791
rs1444588236
418 W>R No ClinGen
gnomAD
CA341844801
rs1570959486
419 L>F No ClinGen
Ensembl
rs764635041
CA1025267
421 L>V No ClinGen
ExAC
gnomAD
CA1025269
rs757650235
422 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA341844845
rs1266324574
426 G>A No ClinGen
gnomAD
TCGA novel 429 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 431 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341844935
rs1427201017
439 N>Y No ClinGen
TOPMed
TCGA novel 443 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750806208
CA1025291
445 R>Q No ClinGen
ExAC
gnomAD
CA29660272
rs747605557
456 L>P No ClinGen
Ensembl
TCGA novel 458 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 459 C>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 460 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs922631358
CA29660281
460 I>V No ClinGen
TOPMed
rs1250825397
CA341770428
468 K>R No ClinGen
TOPMed
rs1181286163
CA341770434
469 E>K No ClinGen
TOPMed
CA341770451
rs1347690405
470 M>K No ClinGen
TOPMed
gnomAD
rs1347690405
CA341770454
470 M>T No ClinGen
TOPMed
gnomAD
CA29660322
rs934067705
472 E>G No ClinGen
TOPMed
CA1025299
rs370297737
473 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1025302
rs148719009
475 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM894391
CA1025301
rs148719009
475 A>T Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201409287
CA1025305
478 V>I No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 483 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341770676
rs1320985329
488 Y>* No ClinGen
TOPMed
CA341770779
rs1402054299
493 H>Y No ClinGen
gnomAD
CA341770818
rs751451407
496 P>S No ClinGen
ExAC
gnomAD
rs751451407
CA1025336
496 P>T No ClinGen
ExAC
gnomAD
rs141400264
CA1025338
499 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141400264
CA1025339
499 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1025342
rs748836037
500 E>D No ClinGen
ExAC
gnomAD
CA1025341
rs779802423
500 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs768214820
CA1025343
502 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 503 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341770895
rs144872101
503 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1025344
rs778154659
503 H>Y No ClinGen
ExAC
gnomAD
rs767656830
CA29661117
506 V>A No ClinGen
Ensembl
rs574791429
CA341771037
517 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs574791429
CA1025348
517 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA341771039
rs11540949
517 R>H No ClinGen
gnomAD
CA29661125
rs11540949
517 R>L No ClinGen
gnomAD
CA341771087
rs1339242029
522 L>F No ClinGen
TOPMed
gnomAD
CA29661152
rs910066930
525 G>S No ClinGen
Ensembl
rs1370663382
CA341771126
527 E>K No ClinGen
gnomAD
CA341771140
rs1307308245
528 Q>H No ClinGen
gnomAD
CA341771139
rs1225144480
528 Q>R No ClinGen
gnomAD
TCGA novel 530 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341771167
rs1570964688
532 E>D No ClinGen
Ensembl
rs764106140
CA1025352
532 E>K No ClinGen
ExAC
gnomAD
rs142766448
CA1025354
COSM159267
536 D>E NS [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs941562505
CA29661190
536 D>G No ClinGen
Ensembl
TCGA novel 541 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs554306933
CA1025357
542 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs766132580
CA1025358
544 E>Q No ClinGen
ExAC
gnomAD
rs760784617 547 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 548 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341771347
rs1411149485
557 H>Q No ClinGen
gnomAD
rs754714789
CA1025379
564 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA29662455
rs866553949
568 G>E No ClinGen
gnomAD
rs757809799
CA1025382
575 D>N No ClinGen
ExAC
gnomAD
rs77217304
CA1025384
580 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs796431957
CA29662482
582 N>D No ClinGen
Ensembl
CA29662490
rs369543323
582 N>K No ClinGen
ESP
TOPMed
gnomAD
rs780464509
CA1025387
586 V>I No ClinGen
ExAC
gnomAD
CA1025386
rs780464509
586 V>L No ClinGen
ExAC
gnomAD
rs768973685
CA1025388
590 S>C No ClinGen
ExAC
gnomAD
TCGA novel 591 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs893896136
CA29662529
603 V>M No ClinGen
TOPMed
gnomAD
rs1557789877
CA341771675
606 C>Y No ClinGen
Ensembl
rs1283565006
CA341772089
624 A>T No ClinGen
gnomAD
rs921744874
CA29663691
627 I>V No ClinGen
Ensembl
TCGA novel 638 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341772184
rs1436762122
638 N>S No ClinGen
gnomAD
rs1570970680
CA341772197
640 T>P No ClinGen
Ensembl
rs769421768
CA1025417
641 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs762583802
CA1025419
644 I>T No ClinGen
ExAC
gnomAD
rs1201285937
CA341772236
646 A>T No ClinGen
gnomAD
CA1025420
rs372681379
646 A>V No ClinGen
ESP
ExAC
gnomAD
CA341772241
rs1238522812
647 R>C No ClinGen
TOPMed
rs201085928
CA1025421
647 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs919369021
CA29663725
648 L>P No ClinGen
TOPMed
rs1395827507
CA341772255
649 N>S No ClinGen
gnomAD
rs1439104737
CA341772271
651 P>L No ClinGen
Ensembl
rs1336646309
CA341772276
652 V>A No ClinGen
gnomAD
rs1194998549
CA341772282
653 S>T No ClinGen
gnomAD
CA29663736
rs202066011
654 Q>E No ClinGen
1000Genomes
CA1025423
rs766905602
657 P>S No ClinGen
ExAC
gnomAD
rs1490776856
CA341772346
661 K>R No ClinGen
gnomAD
rs1210280323
CA341772355
662 A>V No ClinGen
gnomAD
rs200285355
CA1025458
664 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140135222
CA1025460
667 G>S No ClinGen
ESP
ExAC
TCGA novel 671 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1025464
rs768375815
676 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 682 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288667083
CA341772503
683 K>N No ClinGen
gnomAD
CA341772508
rs1383372068
684 Y>F No ClinGen
TOPMed
gnomAD
rs1177991548
CA341772515
685 H>Y No ClinGen
TOPMed
TCGA novel 687 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266835711
CA341772546
689 V>A No ClinGen
TOPMed
TCGA novel 689 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA29664678
rs181070201
702 V>M No ClinGen
1000Genomes
rs902103517 708 Q>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1402651344
CA341772970
709 G>S No ClinGen
gnomAD
rs1407614555
CA341772975
709 G>V No ClinGen
TOPMed
TCGA novel 721 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293321023
CA341773122
731 G>V No ClinGen
gnomAD
CA341773123
rs1288773906
732 V>I No ClinGen
gnomAD
rs1221578816
CA341773136
734 M>V No ClinGen
gnomAD
rs781780318
CA29665284
737 A>T No ClinGen
Ensembl
CA341773161
rs1312834908
737 A>V No ClinGen
gnomAD
rs758143918
CA1025501
743 K>R No ClinGen
ExAC
CA341773302
rs1246429588
758 I>F No ClinGen
gnomAD
rs11540954
CA29665327
761 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs138064651
CA1025504
762 V>I No ClinGen
ESP
ExAC
gnomAD
rs956023678
CA29665573
766 R>H No ClinGen
Ensembl
CA341773464
rs1201985754
776 I>F No ClinGen
TOPMed
rs747283959
CA1025531
789 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341773729
rs1446826980
795 I>M No ClinGen
gnomAD
rs776767098
CA1025533
796 A>T No ClinGen
ExAC
gnomAD
CA341773752
rs1367224721
797 N>S No ClinGen
Ensembl
CA341773859
rs1242082318
809 C>F No ClinGen
gnomAD
CA341773929
rs1248998698
COSM3801399
817 V>A Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs753467237
CA29666077
827 A>S No ClinGen
Ensembl
rs756876559
CA29666078
827 A>V No ClinGen
Ensembl
TCGA novel 830 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs865875870
CA29666093
839 P>T No ClinGen
Ensembl
rs1261870395
CA341774218
840 K>T No ClinGen
gnomAD
CA29666095
rs12724229
841 T>P No ClinGen
Ensembl
rs1557793103
CA341774236
841 T>R No ClinGen
Ensembl
CA341774256
rs1342249879
843 K>* No ClinGen
gnomAD
CA341774255
rs1342249879
843 K>E No ClinGen
gnomAD
rs1557793134
CA341774328
848 R>Q No ClinGen
Ensembl
rs963515301
CA29666117
849 L>P No ClinGen
TOPMed
TCGA novel 853 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781629728
CA1025588
859 M>T No ClinGen
ExAC
gnomAD
CA1025592
rs749535308
870 F>L No ClinGen
ExAC
gnomAD
CA341774951
rs1299272466
876 N>H No ClinGen
gnomAD
rs772164096
CA1025596
877 G>A No ClinGen
ExAC
gnomAD
CA29667420
rs976897509
879 L>F No ClinGen
Ensembl
CA1025599
rs770689048
881 I>V No ClinGen
ExAC
gnomAD
CA29667442
rs879242854
885 G>D No ClinGen
Ensembl
rs1570979931
CA341775014
886 L>I No ClinGen
Ensembl
rs1248823681
CA341775021
887 R>* No ClinGen
gnomAD
CA341775030
rs1570979952
888 V>E No ClinGen
Ensembl
CA341775031
rs1570979962
889 D>N No ClinGen
Ensembl
CA1025601
rs759150142
891 D>H No ClinGen
ExAC
gnomAD
TCGA novel 892 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764919483
CA1025602
893 R>C No ClinGen
ExAC
gnomAD
CA1025603
rs775005099
893 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1570979998
CA341775095
894 W>R No ClinGen
Ensembl
CA29667477
rs983463553
903 G>R No ClinGen
Ensembl
TCGA novel 905 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1570980329
CA341775390
907 T>P No ClinGen
Ensembl
CA1025625
rs373693545
CA341775452
909 E>D No ClinGen
ESP
ExAC
gnomAD
CA29667711
rs11540950
910 Q>* No ClinGen
ExAC
CA1025626
rs11540950
910 Q>E No ClinGen
ExAC
CA1025629
rs765387548
915 E>A No ClinGen
ExAC
gnomAD
rs753022560
CA1025630
916 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs753022560
CA1025631
916 F>Y No ClinGen
ExAC
TOPMed
gnomAD
rs747061651
CA1025633
917 T>P No ClinGen
ExAC
gnomAD
CA341775596
rs1319543170
921 A>T No ClinGen
TOPMed
CA341775620
rs1479883375
924 V>I No ClinGen
gnomAD
rs775252649
CA1025638
927 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA1025642
rs761343155
935 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA1025646
rs765762308
948 G>E No ClinGen
ExAC
gnomAD
rs1368453220
CA341775797
949 M>I No ClinGen
gnomAD
CA1025658
rs768322777
955 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1295272161
CA341775866
956 F>L No ClinGen
gnomAD
CA341775970
rs1205596969
964 L>V No ClinGen
TOPMed
rs771666666
CA1025661
971 C>S No ClinGen
ExAC
gnomAD
CA1025663
rs760128653
976 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1287302513
CA341776171
979 R>T No ClinGen
TOPMed
CA29668153
rs112208164
983 L>P No ClinGen
Ensembl
CA1025665
rs776018998
984 K>E No ClinGen
ExAC
gnomAD
CA341776281
rs776018998
984 K>Q No ClinGen
ExAC
gnomAD
CA341776294
rs1247867551
984 K>R No ClinGen
gnomAD
CA341777295
rs1159632321
985 P>H No ClinGen
TOPMed
CA29669845
rs771215472
986 T>I No ClinGen
Ensembl
CA341777369
rs1272955218
995 S>C No ClinGen
TOPMed
gnomAD
rs753827120
CA1025693
1000 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1006 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490428511
CA341777453
1007 L>R No ClinGen
gnomAD
CA341777457
rs1440360198
1008 I>N No ClinGen
gnomAD
CA341777463
rs1211929333
1009 I>L No ClinGen
gnomAD
CA1025697
rs758090295
1011 R>Q Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1025698
rs777250534
1012 R>C No ClinGen
ExAC
gnomAD
CA341777480
rs777250534
1012 R>G No ClinGen
ExAC
gnomAD
rs746521823
CA1025699
1012 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341777489
rs1414092859
1014 G>S No ClinGen
gnomAD
CA341777903
rs1570987397
1017 V>G No ClinGen
Ensembl

2 associated diseases with P05023

[MIM: 618036]: Charcot-Marie-Tooth disease 2DD (CMT2DD)

A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology

[MIM: 618314]: Hypomagnesemia, seizures, and intellectual disability 2 (HOMGSMR2)

An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269|PubMed:30388404}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
  • An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269|PubMed:30388404}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P05023

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P05023

Functions

Description
EC Number 7.2.2.13 Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Basolateral cell membrane ; Multi-pass membrane protein
  • Cell membrane, sarcolemma ; Multi-pass membrane protein
  • Cell projection, axon
  • Melanosome
  • Identified by mass spectrometry in melanosome fractions from stage I to stage IV
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

21 GO annotations of cellular component

Name Definition
apical plasma membrane The region of the plasma membrane located at the apical end of the cell.
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
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).
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular vesicle Any vesicle that is part of the extracellular region.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lateral plasma membrane The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells.
melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
organelle membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle.
photoreceptor inner segment membrane The membrane surrounding the inner segment of a vertebrate photoreceptor. The photoreceptor inner segment contains mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
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.
sarcolemma The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.
sodium:potassium-exchanging ATPase complex Sodium:potassium-exchanging ATPases are tetrameric proteins, consisting of two large alpha subunits and two smaller beta subunits. The alpha subunits bear the active site and penetrate the membrane, while the beta subunits carry oligosaccharide groups and face the cell exterior.
sperm flagellum A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid.
T-tubule Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane.

10 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled cation transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in).
chaperone binding Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport.
P-type sodium:potassium-exchanging transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in).
phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate.
potassium ion binding Binding to a potassium ion (K+).
protein heterodimerization activity Binding to a nonidentical protein to form a heterodimer.
sodium ion binding Binding to a sodium ion (Na+).
steroid hormone binding Binding to a steroid hormone.

21 GO annotations of biological process

Name Definition
cardiac muscle cell action potential involved in contraction An action potential that occurs in a cardiac muscle cell and is involved in its contraction.
cell communication by electrical coupling involved in cardiac conduction The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels and contributes to the process of cardiac conduction.
cellular potassium ion homeostasis Any process involved in the maintenance of an internal steady state of potassium ions at the level of a cell.
cellular response to steroid hormone 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 steroid hormone stimulus.
cellular sodium ion homeostasis Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell.
establishment or maintenance of transmembrane electrochemical gradient The directed movement of ions to establish or maintain an electrochemical gradient across a membrane by means of some agent such as a transporter or pore.
membrane repolarization The process in which ions are transported across a membrane such that the membrane potential changes in the repolarizing direction, toward the steady state potential. For example, the repolarization during an action potential is from a positive membrane potential towards a negative resting potential.
membrane repolarization during cardiac muscle cell action potential The process in which ions are transported across a membrane such that the cardiac muscle cell plasma membrane potential changes in the direction from the positive membrane potential at the peak of the action potential towards the negative resting potential.
negative regulation of glucocorticoid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids.
negative regulation of heart contraction Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction.
positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction.
positive regulation of striated muscle contraction Any process that activates or increases the frequency, rate or extent of striated muscle contraction.
potassium ion import across plasma membrane The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol.
proton transmembrane transport The directed movement of a proton across a membrane.
regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure.
regulation of sodium ion transport Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of the force of heart contraction Any process that modulates the extent of heart contraction, changing the force with which blood is propelled.
relaxation of cardiac muscle The process in which the extent of cardiac muscle contraction is reduced.
response to glycoside Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoside stimulus.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
sodium ion export across plasma membrane The directed movement of sodium ions from inside of a cell, across the plasma membrane and into the extracellular region.

14 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P13607 Atpalpha Sodium/potassium-transporting ATPase subunit alpha Drosophila melanogaster (Fruit fly) PR
P20648 ATP4A Potassium-transporting ATPase alpha chain 1 Homo sapiens (Human) PR
P54707 ATP12A Potassium-transporting ATPase alpha chain 2 Homo sapiens (Human) PR
Q64436 Atp4a Potassium-transporting ATPase alpha chain 1 Mus musculus (Mouse) PR
Q9Z1W8 Atp12a Potassium-transporting ATPase alpha chain 2 Mus musculus (Mouse) PR
Q6PIE5 Atp1a2 Sodium/potassium-transporting ATPase subunit alpha-2 Mus musculus (Mouse) PR
Q6PIC6 Atp1a3 Sodium/potassium-transporting ATPase subunit alpha-3 Mus musculus (Mouse) PR
Q9WV27 Atp1a4 Sodium/potassium-transporting ATPase subunit alpha-4 Mus musculus (Mouse) PR
Q8VDN2 Atp1a1 Sodium/potassium-transporting ATPase subunit alpha-1 Mus musculus (Mouse) PR
P19156 ATP4A Potassium-transporting ATPase alpha chain 1 Sus scrofa (Pig) PR
P54708 Atp12a Potassium-transporting ATPase alpha chain 2 Rattus norvegicus (Rat) PR
P09626 Atp4a Potassium-transporting ATPase alpha chain 1 Rattus norvegicus (Rat) PR
Q64541 Atp1a4 Sodium/potassium-transporting ATPase subunit alpha-4 Rattus norvegicus (Rat) PR
P06685 Atp1a1 Sodium/potassium-transporting ATPase subunit alpha-1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MGKGVGRDKY EPAAVSEQGD KKGKKGKKDR DMDELKKEVS MDDHKLSLDE LHRKYGTDLS
70 80 90 100 110 120
RGLTSARAAE ILARDGPNAL TPPPTTPEWI KFCRQLFGGF SMLLWIGAIL CFLAYSIQAA
130 140 150 160 170 180
TEEEPQNDNL YLGVVLSAVV IITGCFSYYQ EAKSSKIMES FKNMVPQQAL VIRNGEKMSI
190 200 210 220 230 240
NAEEVVVGDL VEVKGGDRIP ADLRIISANG CKVDNSSLTG ESEPQTRSPD FTNENPLETR
250 260 270 280 290 300
NIAFFSTNCV EGTARGIVVY TGDRTVMGRI ATLASGLEGG QTPIAAEIEH FIHIITGVAV
310 320 330 340 350 360
FLGVSFFILS LILEYTWLEA VIFLIGIIVA NVPEGLLATV TVCLTLTAKR MARKNCLVKN
370 380 390 400 410 420
LEAVETLGST STICSDKTGT LTQNRMTVAH MWFDNQIHEA DTTENQSGVS FDKTSATWLA
430 440 450 460 470 480
LSRIAGLCNR AVFQANQENL PILKRAVAGD ASESALLKCI ELCCGSVKEM RERYAKIVEI
490 500 510 520 530 540
PFNSTNKYQL SIHKNPNTSE PQHLLVMKGA PERILDRCSS ILLHGKEQPL DEELKDAFQN
550 560 570 580 590 600
AYLELGGLGE RVLGFCHLFL PDEQFPEGFQ FDTDDVNFPI DNLCFVGLIS MIDPPRAAVP
610 620 630 640 650 660
DAVGKCRSAG IKVIMVTGDH PITAKAIAKG VGIISEGNET VEDIAARLNI PVSQVNPRDA
670 680 690 700 710 720
KACVVHGSDL KDMTSEQLDD ILKYHTEIVF ARTSPQQKLI IVEGCQRQGA IVAVTGDGVN
730 740 750 760 770 780
DSPALKKADI GVAMGIAGSD VSKQAADMIL LDDNFASIVT GVEEGRLIFD NLKKSIAYTL
790 800 810 820 830 840
TSNIPEITPF LIFIIANIPL PLGTVTILCI DLGTDMVPAI SLAYEQAESD IMKRQPRNPK
850 860 870 880 890 900
TDKLVNERLI SMAYGQIGMI QALGGFFTYF VILAENGFLP IHLLGLRVDW DDRWINDVED
910 920 930 940 950 960
SYGQQWTYEQ RKIVEFTCHT AFFVSIVVVQ WADLVICKTR RNSVFQQGMK NKILIFGLFE
970 980 990 1000 1010 1020
ETALAAFLSY CPGMGVALRM YPLKPTWWFC AFPYSLLIFV YDEVRKLIIR RRPGGWVEKE
TYY