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Results for the Protein: P13637
116241260
478

AT1A3_HUMAN RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-3; Short=Na(+)/K(+) ATPase alpha-3 subunit; AltName: Full=Na(+)/K(+) ATPase alpha(III) subunit; AltName: Full=Sodium pump subunit alpha-3

Known Diseases associated with this Protein:
  ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
  ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 (AHC2)
  DYSTONIA 12
  DYSTONIA 12 (DYT12)
34
0
11
0
23
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Default View:

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


Swiss-Prot Protein: P13637
Identical to: NP_689509
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZntACOG22171.6e-1026827
Cation_ATPase_Npfam006902.3e-2333101
KdpBCOG22162.9e-0963810
E1-E2_ATPasepfam001223.3e-81125356
Cation_ATPase_Cpfam006893.3e-47789998
Cation_ATPase_Nsmart008311.2e-1943106

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_068951Diseasep.ALA955ASPAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068942Diseasep.ASN773SERAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068938Diseasep.ASP220ASNAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068943Diseasep.ASP801ASNAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068949Diseasep.ASP923ASNDystonia 12 (DYT12)
Swiss-ProtVAR_026740Diseasep.ASP801TYRDystonia 12 (DYT12)
Swiss-ProtVAR_068952Diseasep.ASP992TYRAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068940Diseasep.CYS333PHEAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068937Diseasep.GLN140LEUAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_026736Diseasep.GLU277LYSDystonia 12 (DYT12)
Swiss-ProtVAR_068947Diseasep.GLU815LYSAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068950Diseasep.GLY947ARGAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068941Diseasep.GLY755SERAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068939Diseasep.ILE274ASNAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_026738Diseasep.ILE758SERDystonia 12 (DYT12)
Swiss-ProtVAR_068945Diseasep.ILE810SERAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_026735Diseasep.ILE274THRDystonia 12 (DYT12)
Swiss-ProtVAR_068944Diseasep.MET806ARGAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_026739Diseasep.PHE780LEUDystonia 12 (DYT12)
Swiss-ProtVAR_068935Diseasep.SER137PHEAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068946Diseasep.SER811PROAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_068936Diseasep.SER137TYRAlternating hemiplegia of childhood 2 (AHC2)
Swiss-ProtVAR_026737Diseasep.THR613METDystonia 12 (DYT12)
OMIM182350.0009 Diseasep.ASP788ASNALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM182350.0007 Diseasep.ASP910ASNDYSTONIA 12
OMIM182350.0006 Diseasep.ASP788TYRDYSTONIA 12
OMIM182350.0003 Diseasep.GLU264LYSDYSTONIA 12
OMIM182350.0010 Diseasep.GLU802LYSALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM182350.0012 Diseasep.GLY934ARGALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM182350.0004 Diseasep.ILE745SERDYSTONIA 12
OMIM182350.0002 Diseasep.ILE261THRDYSTONIA 12
OMIM182350.0005 Diseasep.PHE767LEUDYSTONIA 12
OMIM182350.0011 Diseasep.SER798PROALTERNATING HEMIPLEGIA OF CHILDHOOD 2
OMIM182350.0001 Diseasep.THR600METDYSTONIA 12



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