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Results for the Protein: P50993
1703467
477

AT1A2_HUMAN RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-2; Short=Na(+)/K(+) ATPase alpha-2 subunit; AltName: Full=Sodium pump subunit alpha-2; Flags: Precursor

Known Diseases associated with this Protein:
  ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
  ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 (AHC1)
  MIGRAINE, FAMILIAL BASILAR
  MIGRAINE, FAMILIAL HEMIPLEGIC, 2
  MIGRAINE, FAMILIAL HEMIPLEGIC, 2 (FHM2)
22
0
14
0
8
Tips:
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Default View:

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


Swiss-Prot Protein: P50993
Identical to: NP_000693
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MgtACOG04746e-247171009
ZntACOG22171.7e-1012834
Cation_ATPase_Npfam006901.3e-1941109
KdpBCOG22161.3e-0958817
E1-E2_ATPasepfam001221.2e-79133364
Cation_ATPase_Cpfam006891.1e-487961005
Cation_ATPase_Nsmart008314.5e-2151114

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019935Diseasep.ARG689GLNMigraine, familial hemiplegic, 2 (FHM2)
Swiss-ProtVAR_069992Diseasep.ARG1007TRPMigraine, familial hemiplegic, 2 (FHM2)
Swiss-ProtVAR_065685Diseasep.GLY715ARGMigraine, familial hemiplegic, 2 (FHM2)
Swiss-ProtVAR_069991Diseasep.GLY874SERMigraine, familial hemiplegic, 2 (FHM2)
Swiss-ProtVAR_019937Diseasep.LEU764PROMigraine, familial hemiplegic, 2 (FHM2)
Swiss-ProtVAR_019936Diseasep.MET731THRMigraine, familial hemiplegic, 2 (FHM2)
Swiss-ProtVAR_019934Diseasep.THR378ASNAlternating hemiplegia of childhood 1 (AHC1)
Swiss-ProtVAR_019938Diseasep.TRP887ARGMigraine, familial hemiplegic, 2 (FHM2)
OMIM182340.0004 Diseasep.ARG689GLNMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0010 Diseasep.ARG548HISMIGRAINE, FAMILIAL BASILAR
OMIM182340.0013 Diseasep.ARG65TRPMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0008 Diseasep.ASP718ASNMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0006 Diseasep.GLY301ARGMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0011 Diseasep.ILE286THRMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0001 Diseasep.LEU764PROMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0003 Diseasep.MET731THRMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0009 Diseasep.PRO979LEUMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0007 Diseasep.THR345ALAMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0005 Diseasep.THR378ASNALTERNATING HEMIPLEGIA OF CHILDHOOD 1
OMIM182340.0014 Diseasep.THR376METMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0012 Diseasep.THR415METMIGRAINE, FAMILIAL HEMIPLEGIC, 2
OMIM182340.0002 Diseasep.TRP887ARGMIGRAINE, FAMILIAL HEMIPLEGIC, 2



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