Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O00555
6166047
773

CAC1A_HUMAN RecName: Full=Voltage-dependent P/Q-type calcium channel subunit alpha-1A; AltName: Full=Brain calcium channel I; Short=BI; AltName: Full=Calcium channel, L type, alpha-1 polypeptide isoform 4; AltName: Full=Voltage-gated calcium channel subunit alpha Cav2.1

Known Diseases associated with this Protein:
  ATAXIA 6 (SCA6)
  EPISODIC ATAXIA 2 (EA2)
  MIGRAINE, FAMILIAL HEMIPLEGIC, 1 (FHM1)
  SPINOCEREBELLAR ATAXIA 6 (SCA6)
38
10
0
0
48
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:

Ca_chan_IQ - pfam08763


Swiss-Prot Protein: O00555
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063685Diseasep.ALA405THRataxia 6 (SCA6)
Swiss-ProtVAR_063686Polymorphismp.ALA454THRN/A
Swiss-ProtVAR_014456Polymorphismp.ALA21VALN/A
Swiss-ProtVAR_063692Diseasep.ARG1679CYSEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043842Diseasep.ARG2135CYSEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043830Diseasep.ARG1346GLNMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_063691Diseasep.ARG1664GLNSpinocerebellar ataxia 6 (SCA6)
Swiss-ProtVAR_001491Diseasep.ARG192GLNMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043826Diseasep.ARG583GLNMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043837Diseasep.ARG1661HISEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043820Diseasep.ARG195LYSMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043838Diseasep.ARG1667TRPMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043827Diseasep.ASP715GLUMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_063693Diseasep.CYS1869ARGEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043823Diseasep.CYS256ARGEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043824Diseasep.CYS287TYREpisodic ataxia 2 (EA2)
Swiss-ProtVAR_059221Polymorphismp.GLU732ALAN/A
Swiss-ProtVAR_014459Polymorphismp.GLU918ASPN/A
Swiss-ProtVAR_014461Polymorphismp.GLU1015LYSN/A
Swiss-ProtVAR_043841Diseasep.GLU1756LYSEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_067342Diseasep.GLU388LYSEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043828Polymorphismp.GLU993VALN/A
Swiss-ProtVAR_043834Diseasep.GLY1482ARGEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043825Diseasep.GLY293ARGSpinocerebellar ataxia 6 (SCA6)
Swiss-ProtVAR_063688Diseasep.GLY638ASPEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_014462Polymorphismp.GLY1105SERN/A
Swiss-ProtVAR_043840Diseasep.HIS1736LEUEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043822Diseasep.HIS253TYREpisodic ataxia 2 (EA2)
Swiss-ProtVAR_001494Diseasep.ILE1810LEUMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_063684Diseasep.LEU389PHEEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043829Diseasep.LYS1335GLUMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_063689Diseasep.MET798THREpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043832Diseasep.PHE1403CYSEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_043835Diseasep.PHE1490SEREpisodic ataxia 2 (EA2)
Swiss-ProtVAR_063690Diseasep.PRO897ARGEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_059222Polymorphismp.PRO1173LEUN/A
Swiss-ProtVAR_014463Polymorphismp.PRO2394SERN/A
Swiss-ProtVAR_014458Polymorphismp.PRO914SERN/A
Swiss-ProtVAR_043821Diseasep.SER218LEUMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_063687Diseasep.THR501METEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_001492Diseasep.THR666METMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043839Diseasep.TRP1683ARGMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043831Diseasep.TYR1384CYSMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_063683Diseasep.TYR248CYSEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_001493Diseasep.VAL714ALAMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043836Diseasep.VAL1493ILEEpisodic ataxia 2 (EA2)
Swiss-ProtVAR_063706Diseasep.VAL1695ILEMigraine, familial hemiplegic, 1 (FHM1)
Swiss-ProtVAR_043833Diseasep.VAL1456LEUMigraine, familial hemiplegic, 1 (FHM1)



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