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Results for the Protein: NP_001005918
55743073
540

copper-transporting ATPase 2 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  WILSON DISEASE
17
6
17
6
0
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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HMAcd003712e-26146209
HMAcd003713.1e-24260323
HMAcd003719e-30362425
HMAcd003716.5e-25491554
MgtACOG04740.000175231256
HMAcd003712.3e-18567630
HAD_likecd014270.000789721077
CopZCOG26082e-0857127
HMApfam004037e-1261122
CopZCOG26084.7e-15142212
HMApfam004031.1e-11146207
CopZCOG26081.3e-09256326
HMApfam004031.9e-13260321
ZntACOG22171.4e-1913581177
CopZCOG26088.2e-15358428
HMApfam004034e-17362423
CopZCOG26081.3e-10487557
HMApfam004031.7e-11491552
CopZCOG26082.8e-08563633
HMApfam004037.6e-12567629
KdpBCOG22163.3e-155851150
E1-E2_ATPasepfam001228.5e-32618810
Hydrolasepfam007021.3e-478141072
COG4087COG40874.9e-079621107

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7334118 Polymorphismp.HIS1000ARGN/A
dbSNPrs60003608 Polymorphismp.ILE760PHEN/A
dbSNPrs1061472 Polymorphismp.LYS670ARGN/A
dbSNPrs1801243 Polymorphismp.SER406ALAN/A
dbSNPrs1801249 Polymorphismp.VAL933ALAN/A
dbSNPrs1801244 Polymorphismp.VAL456LEUN/A
OMIM606882.0016 Diseasep.ALA712VALWILSON DISEASE
OMIM606882.0018 Diseasep.ARG762GLNWILSON DISEASE
OMIM606882.0014 606882.0024 Diseasep.ARG1GLYWILSON DISEASE
OMIM606882.0009 Diseasep.ARG1LEUWILSON DISEASE
OMIM606882.0003 Diseasep.ASN1SERWILSON DISEASE
OMIM606882.0017 Diseasep.ASN1063SERWILSON DISEASE
OMIM606882.0012 Diseasep.ASP1ASNWILSON DISEASE
OMIM606882.0022 Diseasep.GLN289TERWILSON DISEASE
OMIM606882.0007 Diseasep.GLY1060ARGWILSON DISEASE
OMIM606882.0021 Diseasep.GLY969ARGWILSON DISEASE
OMIM606882.0013 Diseasep.GLY1SERWILSON DISEASE
OMIM606882.0002 Diseasep.HIS1GLNWILSON DISEASE
OMIM606882.0006 Diseasep.HIS862GLNWILSON DISEASE
OMIM606882.0021 606882.0025 Diseasep.ILE941THRWILSON DISEASE
OMIM606882.0023 Diseasep.LEU1PROWILSON DISEASE
OMIM606882.0020 Diseasep.MET1ARGWILSON DISEASE
OMIM606882.0019 Diseasep.THR1ARGWILSON DISEASE



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