Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001186112
312836771

calcium-transporting ATPase type 2C member 1 isoform 1e [Homo sapiens]

Known Diseases associated with this Protein:
  HAILEY-HAILEY DISEASE
4
2
4
2
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

MgtA - COG0474
ZntA - COG2217
Cation_ATPase_N - pfam00690
Cation_ATPase_N - smart00831
KdpB - COG2216
E1-E2_ATPase - pfam00122
Hydrolase - pfam00702
COG4087 - COG4087
Cation_ATPase_C - pfam00689




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZntACOG22176.5e-116723
Cation_ATPase_Npfam006904e-201078
KdpBCOG22168.7e-1038736
E1-E2_ATPasepfam001221.5e-8389324
Hydrolasepfam007024.4e-07328640
COG4087COG40871.4e-05537676
Cation_ATPase_Cpfam006897.9e-60710882
Cation_ATPase_Nsmart008315.7e-162083

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs41434650 Polymorphismp.ALA434THRN/A
dbSNPrs61731514 Polymorphismp.SER282ARGN/A
OMIM604384.0002 Diseasep.ALA254THRHAILEY-HAILEY DISEASE
OMIM604384.0003 Diseasep.ARG418TERHAILEY-HAILEY DISEASE
OMIM604384.0006 Diseasep.CYS440PHEHAILEY-HAILEY DISEASE
OMIM604384.0008 Diseasep.LEU534PROHAILEY-HAILEY DISEASE



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258