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Results for the Protein: P35670
239938919
540

ATP7B_HUMAN RecName: Full=Copper-transporting ATPase 2; AltName: Full=Copper pump 2; AltName: Full=Wilson disease-associated protein; Contains: RecName: Full=WND/140 kDa

Known Diseases associated with this Protein:
  WILSON DISEASE
  WILSON DISEASE (WD)
212
26
18
7
213
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

CopZ - COG2608
HMA - pfam00403
HMA - cd00371
ZntA - COG2217
MgtA - COG0474
KdpB - COG2216
E1-E2_ATPase - pfam00122
Hydrolase - pfam00702
COG4087 - COG4087
HAD_like - cd01427


Swiss-Prot Protein: P35670
Identical to: NP_000044
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HMAcd003712e-26146209
HMAcd003713.1e-24260323
HMAcd003719e-30362425
HMAcd003716.5e-25491554
HMAcd003714.9e-25567630
MgtACOG04743.2e-056451463
HAD_likecd014270.0007811791284
CopZCOG26082e-0857127
HMApfam004037e-1261122
CopZCOG26084.7e-15142212
HMApfam004031.1e-11146207
CopZCOG26081.3e-09256326
HMApfam004031.9e-13260321
CopZCOG26088.2e-15358428
HMApfam004034e-17362423
CopZCOG26081.3e-10487557
HMApfam004031.7e-11491552
ZntACOG22177.4e-2885631384
CopZCOG26088.1e-14563633
HMApfam004032.1e-15567628
KdpBCOG22169.1e-167361357
E1-E2_ATPasepfam001225.8e-687691017
Hydrolasepfam007021.3e-4710211279
COG4087COG40874.9e-0711691314

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023010Polymorphismp.ALA14ASPN/A
Swiss-ProtVAR_000771Diseasep.ALA1183GLYWilson disease (WD)
Swiss-ProtVAR_044462Diseasep.ALA756GLYWilson disease (WD)
Swiss-ProtVAR_044475Diseasep.ALA1065PROWilson disease (WD)
Swiss-ProtVAR_044457Diseasep.ALA604PROWilson disease (WD)
Swiss-ProtVAR_023034Diseasep.ALA1168SERWilson disease (WD)
Swiss-ProtVAR_000791Diseasep.ALA1358SERWilson disease (WD)
Swiss-ProtVAR_044454Diseasep.ALA486SERWilson disease (WD)
Swiss-ProtVAR_000751Diseasep.ALA1003THRWilson disease (WD)
Swiss-ProtVAR_000772Diseasep.ALA1183THRWilson disease (WD)
Swiss-ProtVAR_058936Diseasep.ALA1328THRWilson disease (WD)
Swiss-ProtVAR_044466Diseasep.ALA861THRWilson disease (WD)
Swiss-ProtVAR_009013Diseasep.ALA1003VALWilson disease (WD)
Swiss-ProtVAR_000752Diseasep.ALA1018VALWilson disease (WD)
Swiss-ProtVAR_009018Diseasep.ALA1063VALWilson disease (WD)
Swiss-ProtVAR_000785Polymorphismp.ALA1278VALN/A
Swiss-ProtVAR_000737Diseasep.ALA874VALWilson disease (WD)
Swiss-ProtVAR_058927Diseasep.ALA971VALWilson disease (WD)
Swiss-ProtVAR_009004Diseasep.ARG616GLNWilson disease (WD)
Swiss-ProtVAR_000729Diseasep.ARG778GLNWilson disease (WD)
Swiss-ProtVAR_000747Diseasep.ARG969GLNWilson disease (WD)
Swiss-ProtVAR_000722Polymorphismp.ARG723GLYN/A
Swiss-ProtVAR_000727Diseasep.ARG778GLYWilson disease (WD)
Swiss-ProtVAR_000739Diseasep.ARG919GLYWilson disease (WD)
Swiss-ProtVAR_009022Diseasep.ARG1151HISWilson disease (WD)
Swiss-ProtVAR_000728Diseasep.ARG778LEUWilson disease (WD)
Swiss-ProtVAR_010015Diseasep.ARG1038LYSWilson disease (WD)
dbSNPrs732774 Polymorphismp.ARG952LYSN/A
Swiss-ProtVAR_009015Diseasep.ARG1041PROWilson disease (WD)
Swiss-ProtVAR_000788Diseasep.ARG1322PROWilson disease (WD)
Swiss-ProtVAR_058933Diseasep.ARG1228THRWilson disease (WD)
Swiss-ProtVAR_000754Polymorphismp.ARG1041TRPN/A
Swiss-ProtVAR_023012Diseasep.ARG616TRPWilson disease (WD)
Swiss-ProtVAR_000730Diseasep.ARG778TRPWilson disease (WD)
Swiss-ProtVAR_000740Diseasep.ARG919TRPWilson disease (WD)
Swiss-ProtVAR_067337Diseasep.ASN1332ASPWilson disease (WD)
Swiss-ProtVAR_000783Diseasep.ASN1270SERWilson disease (WD)
Swiss-ProtVAR_023011Diseasep.ASN41SERWilson disease (WD)
Swiss-ProtVAR_000711Polymorphismp.ASN565SERN/A
Swiss-ProtVAR_000782Diseasep.ASP1267ALAWilson disease (WD)
Swiss-ProtVAR_058931Diseasep.ASP1164ASNWilson disease (WD)
Swiss-ProtVAR_044481Diseasep.ASP1222ASNWilson disease (WD)
Swiss-ProtVAR_023039Diseasep.ASP1271ASNWilson disease (WD)
Swiss-ProtVAR_044486Diseasep.ASP1296ASNWilson disease (WD)
Swiss-ProtVAR_000724Diseasep.ASP765ASNWilson disease (WD)
Swiss-ProtVAR_000738Diseasep.ASP918ASNWilson disease (WD)
Swiss-ProtVAR_044495Polymorphismp.ASP1407GLUN/A
Swiss-ProtVAR_023025Diseasep.ASP918GLUWilson disease (WD)
Swiss-ProtVAR_023040Diseasep.ASP1279GLYWilson disease (WD)
Swiss-ProtVAR_023019Diseasep.ASP765GLYWilson disease (WD)
Swiss-ProtVAR_000713Diseasep.ASP642HISWilson disease (WD)
Swiss-ProtVAR_000779Diseasep.ASP1222TYRWilson disease (WD)
Swiss-ProtVAR_044484Diseasep.ASP1279TYRWilson disease (WD)
Swiss-ProtVAR_010020Diseasep.ASP1222VALWilson disease (WD)
Swiss-ProtVAR_058935Diseasep.ASP1267VALWilson disease (WD)
Swiss-ProtVAR_009021Diseasep.CYS1104PHEWilson disease (WD)
Swiss-ProtVAR_044493Diseasep.CYS1375SERWilson disease (WD)
Swiss-ProtVAR_044476Diseasep.CYS1104TYRWilson disease (WD)
Swiss-ProtVAR_044460Diseasep.CYS703TYRWilson disease (WD)
Swiss-ProtVAR_009012Diseasep.CYS985TYRWilson disease (WD)
Swiss-ProtVAR_044483Diseasep.GLN1256ARGWilson disease (WD)
Swiss-ProtVAR_023024Diseasep.GLN898ARGWilson disease (WD)
Swiss-ProtVAR_000766Diseasep.GLN1142HISWilson disease (WD)
Swiss-ProtVAR_058929Diseasep.GLN1004PROWilson disease (WD)
Swiss-ProtVAR_009020Diseasep.GLN1095PROWilson disease (WD)
Swiss-ProtVAR_000756Diseasep.GLU1064ALAWilson disease (WD)
Swiss-ProtVAR_009019Diseasep.GLU1068GLYWilson disease (WD)
Swiss-ProtVAR_058932Diseasep.GLU1173GLYWilson disease (WD)
Swiss-ProtVAR_000757Diseasep.GLU1064LYSWilson disease (WD)
Swiss-ProtVAR_009024Diseasep.GLU1173LYSWilson disease (WD)
Swiss-ProtVAR_058930Diseasep.GLY1149ALAWilson disease (WD)
Swiss-ProtVAR_000712Diseasep.GLY626ALAWilson disease (WD)
Swiss-ProtVAR_010010Diseasep.GLY710ALAWilson disease (WD)
Swiss-ProtVAR_044473Diseasep.GLY1000ARGWilson disease (WD)
Swiss-ProtVAR_000762Diseasep.GLY1101ARGWilson disease (WD)
Swiss-ProtVAR_010019Diseasep.GLY1176ARGWilson disease (WD)
Swiss-ProtVAR_009028Diseasep.GLY1266ARGWilson disease (WD)
Swiss-ProtVAR_067338Diseasep.GLY1341ARGWilson disease (WD)
Swiss-ProtVAR_000716Diseasep.GLY691ARGWilson disease (WD)
Swiss-ProtVAR_000718Diseasep.GLY710ARGWilson disease (WD)
Swiss-ProtVAR_009006Diseasep.GLY711ARGWilson disease (WD)
Swiss-ProtVAR_000736Diseasep.GLY869ARGWilson disease (WD)
Swiss-ProtVAR_023022Polymorphismp.GLY875ARGN/A
Swiss-ProtVAR_044469Diseasep.GLY988ARGWilson disease (WD)
Swiss-ProtVAR_023032Diseasep.GLY1111ASPWilson disease (WD)
Swiss-ProtVAR_000789Diseasep.GLY1341ASPWilson disease (WD)
Swiss-ProtVAR_044456Diseasep.GLY591ASPWilson disease (WD)
Swiss-ProtVAR_000744Diseasep.GLY943ASPWilson disease (WD)
Swiss-ProtVAR_000704Polymorphismp.GLY96ASPN/A
Swiss-ProtVAR_067336Diseasep.GLY998ASPWilson disease (WD)
Swiss-ProtVAR_000773Diseasep.GLY1186CYSWilson disease (WD)
Swiss-ProtVAR_023043Diseasep.GLY1355CYSWilson disease (WD)
Swiss-ProtVAR_044468Diseasep.GLY943CYSWilson disease (WD)
Swiss-ProtVAR_009017Diseasep.GLY1061GLUWilson disease (WD)
Swiss-ProtVAR_000760Diseasep.GLY1089GLUWilson disease (WD)
Swiss-ProtVAR_044478Diseasep.GLY1176GLUWilson disease (WD)
Swiss-ProtVAR_044480Diseasep.GLY1221GLUWilson disease (WD)
Swiss-ProtVAR_000720Diseasep.GLY711GLUWilson disease (WD)
Swiss-ProtVAR_023031Diseasep.GLY1099SERWilson disease (WD)
Swiss-ProtVAR_000774Diseasep.GLY1186SERWilson disease (WD)
Swiss-ProtVAR_044485Diseasep.GLY1287SERWilson disease (WD)
Swiss-ProtVAR_044489Diseasep.GLY1341SERWilson disease (WD)
Swiss-ProtVAR_010021Diseasep.GLY1355SERWilson disease (WD)
Swiss-ProtVAR_000719Diseasep.GLY710SERWilson disease (WD)
Swiss-ProtVAR_000745Diseasep.GLY943SERWilson disease (WD)
Swiss-ProtVAR_009007Diseasep.GLY711TRPWilson disease (WD)
Swiss-ProtVAR_000753Diseasep.GLY1035VALWilson disease (WD)
Swiss-ProtVAR_000761Diseasep.GLY1089VALWilson disease (WD)
Swiss-ProtVAR_000775Diseasep.GLY1213VALWilson disease (WD)
Swiss-ProtVAR_000781Diseasep.GLY1266VALWilson disease (WD)
Swiss-ProtVAR_044490Diseasep.GLY1341VALWilson disease (WD)
Swiss-ProtVAR_044461Diseasep.GLY710VALWilson disease (WD)
Swiss-ProtVAR_000703Diseasep.GLY85VALWilson disease (WD)
Swiss-ProtVAR_009011Diseasep.GLY869VALWilson disease (WD)
Swiss-ProtVAR_044467Diseasep.GLY875VALWilson disease (WD)
Swiss-ProtVAR_010012Diseasep.GLY891VALWilson disease (WD)
dbSNPrs7334118 Polymorphismp.HIS1207ARGN/A
Swiss-ProtVAR_000758Diseasep.HIS1069GLNWilson disease (WD)
Swiss-ProtVAR_044458Diseasep.HIS639TYRWilson disease (WD)
Swiss-ProtVAR_000723Diseasep.ILE747PHEWilson disease (WD)
dbSNPrs60003608 Polymorphismp.ILE967PHEN/A
Swiss-ProtVAR_010013Diseasep.ILE967PHEWilson disease (WD)
Swiss-ProtVAR_000763Diseasep.ILE1102THRWilson disease (WD)
Swiss-ProtVAR_000768Diseasep.ILE1148THRWilson disease (WD)
Swiss-ProtVAR_023042Diseasep.ILE1336THRWilson disease (WD)
Swiss-ProtVAR_000734Diseasep.ILE857THRWilson disease (WD)
Swiss-ProtVAR_058934Diseasep.ILE1230VALWilson disease (WD)
Swiss-ProtVAR_000705Polymorphismp.ILE390VALN/A
Swiss-ProtVAR_023045Diseasep.LEU1373ARGWilson disease (WD)
Swiss-ProtVAR_009010Diseasep.LEU795ARGWilson disease (WD)
Swiss-ProtVAR_023038Diseasep.LEU1255ILEWilson disease (WD)
Swiss-ProtVAR_000759Diseasep.LEU1083PHEWilson disease (WD)
Swiss-ProtVAR_000731Diseasep.LEU795PHEWilson disease (WD)
Swiss-ProtVAR_000755Diseasep.LEU1043PROWilson disease (WD)
Swiss-ProtVAR_023041Diseasep.LEU1305PROWilson disease (WD)
Swiss-ProtVAR_044492Diseasep.LEU1368PROWilson disease (WD)
Swiss-ProtVAR_023044Diseasep.LEU1373PROWilson disease (WD)
Swiss-ProtVAR_067335Diseasep.LEU549PROWilson disease (WD)
Swiss-ProtVAR_000717Diseasep.LEU708PROWilson disease (WD)
Swiss-ProtVAR_044465Diseasep.LEU776PROWilson disease (WD)
Swiss-ProtVAR_000710Diseasep.LEU492SERWilson disease (WD)
Swiss-ProtVAR_023013Diseasep.LEU641SERWilson disease (WD)
Swiss-ProtVAR_009030Diseasep.LEU1327VALWilson disease (WD)
Swiss-ProtVAR_000709Polymorphismp.LEU466VALN/A
Swiss-ProtVAR_000726Polymorphismp.LEU776VALN/A
dbSNPrs1061472 Polymorphismp.LYS832ARGN/A
Swiss-ProtVAR_023037Diseasep.LYS1248ASNWilson disease (WD)
Swiss-ProtVAR_000714Diseasep.MET645ARGWilson disease (WD)
Swiss-ProtVAR_009009Diseasep.MET769ARGWilson disease (WD)
Swiss-ProtVAR_058937Diseasep.MET1359ILEWilson disease (WD)
Swiss-ProtVAR_000715Diseasep.MET665ILEWilson disease (WD)
Swiss-ProtVAR_023021Diseasep.MET769ILEWilson disease (WD)
Swiss-ProtVAR_009023Diseasep.MET1169THRWilson disease (WD)
Swiss-ProtVAR_044472Diseasep.MET996THRWilson disease (WD)
Swiss-ProtVAR_000770Diseasep.MET1169VALWilson disease (WD)
Swiss-ProtVAR_000725Diseasep.MET769VALWilson disease (WD)
Swiss-ProtVAR_023029Diseasep.PHE1094LEUWilson disease (WD)
Swiss-ProtVAR_023030Diseasep.PRO1098ARGWilson disease (WD)
Swiss-ProtVAR_023020Diseasep.PRO768HISWilson disease (WD)
Swiss-ProtVAR_044471Diseasep.PRO992HISWilson disease (WD)
Swiss-ProtVAR_009016Diseasep.PRO1052LEUWilson disease (WD)
Swiss-ProtVAR_000784Diseasep.PRO1273LEUWilson disease (WD)
Swiss-ProtVAR_023014Diseasep.PRO690LEUWilson disease (WD)
Swiss-ProtVAR_023018Diseasep.PRO760LEUWilson disease (WD)
Swiss-ProtVAR_000733Diseasep.PRO840LEUWilson disease (WD)
Swiss-ProtVAR_000749Diseasep.PRO992LEUWilson disease (WD)
Swiss-ProtVAR_023036Polymorphismp.PRO1245SERN/A
Swiss-ProtVAR_044491Diseasep.PRO1352SERWilson disease (WD)
Swiss-ProtVAR_044494Diseasep.PRO1379SERWilson disease (WD)
dbSNPrs1801243 Polymorphismp.SER406ALAN/A
Swiss-ProtVAR_000787Diseasep.SER1310ARGWilson disease (WD)
Swiss-ProtVAR_058926Diseasep.SER657ARGWilson disease (WD)
Swiss-ProtVAR_000741Diseasep.SER921ASNWilson disease (WD)
Swiss-ProtVAR_023015Diseasep.SER693CYSWilson disease (WD)
Swiss-ProtVAR_009031Diseasep.SER1363PHEWilson disease (WD)
Swiss-ProtVAR_023016Diseasep.SER721PROWilson disease (WD)
Swiss-ProtVAR_009008Diseasep.SER744PROWilson disease (WD)
Swiss-ProtVAR_044459Diseasep.SER653TYRWilson disease (WD)
Swiss-ProtVAR_023027Diseasep.SER975TYRWilson disease (WD)
Swiss-ProtVAR_009014Diseasep.THR1033ALAWilson disease (WD)
Swiss-ProtVAR_023017Diseasep.THR737ARGWilson disease (WD)
Swiss-ProtVAR_044464Diseasep.THR766ARGWilson disease (WD)
Swiss-ProtVAR_023033Polymorphismp.THR1143ASNN/A
Swiss-ProtVAR_044474Diseasep.THR1029ILEWilson disease (WD)
Swiss-ProtVAR_010014Diseasep.THR1031ILEWilson disease (WD)
Swiss-ProtVAR_000778Diseasep.THR1220METWilson disease (WD)
Swiss-ProtVAR_009032Diseasep.THR1434METWilson disease (WD)
Swiss-ProtVAR_044463Diseasep.THR766METWilson disease (WD)
Swiss-ProtVAR_000743Diseasep.THR935METWilson disease (WD)
Swiss-ProtVAR_058928Diseasep.THR974METWilson disease (WD)
Swiss-ProtVAR_000748Diseasep.THR977METWilson disease (WD)
Swiss-ProtVAR_044470Diseasep.THR991METWilson disease (WD)
Swiss-ProtVAR_023035Diseasep.THR1232PROWilson disease (WD)
Swiss-ProtVAR_000742Diseasep.THR933PROWilson disease (WD)
Swiss-ProtVAR_023028Diseasep.THR1033SERWilson disease (WD)
Swiss-ProtVAR_010018Diseasep.TRP1153ARGWilson disease (WD)
Swiss-ProtVAR_000790Diseasep.TRP1353ARGWilson disease (WD)
Swiss-ProtVAR_000769Diseasep.TRP1153CYSWilson disease (WD)
Swiss-ProtVAR_000721Diseasep.TYR713CYSWilson disease (WD)
Swiss-ProtVAR_010011Diseasep.TYR741CYSWilson disease (WD)
Swiss-ProtVAR_044455Diseasep.TYR532HISWilson disease (WD)
Swiss-ProtVAR_044488Diseasep.TYR1331SERWilson disease (WD)
dbSNPrs1801249 Polymorphismp.VAL1140ALAN/A
Swiss-ProtVAR_058925Diseasep.VAL536ALAWilson disease (WD)
Swiss-ProtVAR_000750Polymorphismp.VAL995ALAN/A
Swiss-ProtVAR_010017Diseasep.VAL1106ASPWilson disease (WD)
Swiss-ProtVAR_009026Diseasep.VAL1239GLYWilson disease (WD)
Swiss-ProtVAR_023026Diseasep.VAL949GLYWilson disease (WD)
Swiss-ProtVAR_044477Diseasep.VAL1106ILEWilson disease (WD)
Swiss-ProtVAR_044482Diseasep.VAL1252ILEWilson disease (WD)
Swiss-ProtVAR_009029Polymorphismp.VAL1297ILEN/A
Swiss-ProtVAR_000735Polymorphismp.VAL864ILEN/A
Swiss-ProtVAR_044453Polymorphismp.VAL290LEUN/A
Swiss-ProtVAR_000707Polymorphismp.VAL446LEUN/A
dbSNPrs1801244 Polymorphismp.VAL456LEUN/A
Swiss-ProtVAR_000764Polymorphismp.VAL1109METN/A
Swiss-ProtVAR_000767Diseasep.VAL1146METWilson disease (WD)
Swiss-ProtVAR_000776Diseasep.VAL1216METWilson disease (WD)
Swiss-ProtVAR_023023Diseasep.VAL890METWilson disease (WD)
Swiss-ProtVAR_009027Diseasep.VAL1262PHEWilson disease (WD)
OMIM606882.0016 Diseasep.ALA874VALWILSON DISEASE
OMIM606882.0018 Diseasep.ARG969GLNWILSON DISEASE
OMIM606882.0014 Diseasep.ARG919GLYWILSON DISEASE
OMIM606882.0009 Diseasep.ARG778LEUWILSON DISEASE
OMIM606882.0017 Diseasep.ASN1270SERWILSON DISEASE
OMIM606882.0003 Diseasep.ASN915SERWILSON DISEASE
OMIM606882.0012 Diseasep.ASP765ASNWILSON DISEASE
OMIM606882.0022 Diseasep.GLN289TERWILSON DISEASE
OMIM606882.0021 Diseasep.GLY1176ARGWILSON DISEASE
OMIM606882.0007 Diseasep.GLY1267ARGWILSON DISEASE
OMIM606882.0024 Diseasep.GLY691ARGWILSON DISEASE
OMIM606882.0013 Diseasep.GLY943SERWILSON DISEASE
OMIM606882.0006 Diseasep.HIS1069GLNWILSON DISEASE
OMIM606882.0002 Diseasep.HIS714GLNWILSON DISEASE
OMIM606882.0021 606882.0025 Diseasep.ILE1148THRWILSON DISEASE
OMIM606882.0023 Diseasep.LEU708PROWILSON DISEASE
OMIM606882.0020 Diseasep.MET645ARGWILSON DISEASE
OMIM606882.0019 Diseasep.THR766ARGWILSON DISEASE



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