Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P54098
1706507

DPOG1_HUMAN RecName: Full=DNA polymerase subunit gamma-1; AltName: Full=Mitochondrial DNA polymerase catalytic subunit; AltName: Full=PolG-alpha

Known Diseases associated with this Protein:
  AUTOSOMAL DOMINANT, 1
  AUTOSOMAL RECESSIVE
  LEIGH SYNDROME (LS)
  MITOCHOND
  MITOCHONDRIAL DNA DEPLETION
  MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (MTDPS4A)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), INCLUDED
  MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MTDPS4B)
  PROGRESSIVE EXTERNAL OPHTHA
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETI
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS AUTOSOMAL RECESSIVE (PEOB)
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1 (PEOA1)
  SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS (SANDO)
  SENSORY ATAXIC NEUROPATHY,
  SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
  SPINOCEREBELLAR ATAXIA WITH EPILEPSY
  SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED;;
84
9
22
2
69
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:

POLAc - smart00482


Swiss-Prot Protein: P54098
Identical to: NP_001119603, NP_002684
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
POLAcsmart004822.5e-1498711144

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058886Diseasep.ALA767ASPMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058893Diseasep.ALA957PROMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_023682Diseasep.ALA957SERProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023688Diseasep.ALA1105THRProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_012155Diseasep.ALA467THRSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_023677Diseasep.ALA889THRProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023686Diseasep.ARG1096CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_014910Diseasep.ARG1146CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_014906Polymorphismp.ARG546CYSN/A
Swiss-ProtVAR_058887Diseasep.ARG807CYSSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_023681Diseasep.ARG953CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023683Diseasep.ARG1047GLNProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_019267Polymorphismp.ARG193GLNN/A
Swiss-ProtVAR_058880Diseasep.ARG562GLNProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058883Diseasep.ARG627GLNSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_058870Diseasep.ARG232GLYMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058894Diseasep.ARG1096HISMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058871Diseasep.ARG232HISLeigh syndrome (LS)
Swiss-ProtVAR_023680Diseasep.ARG943HISProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023665Diseasep.ARG309LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_012153Diseasep.ARG3PROProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058888Diseasep.ARG807PROProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_014908Polymorphismp.ARG1142TRPN/A
Swiss-ProtVAR_023663Diseasep.ARG227TRPProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058881Diseasep.ARG574TRPProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023670Diseasep.ARG579TRPProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023672Diseasep.ARG627TRPSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_058889Diseasep.ARG853TRPProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023668Diseasep.ASN468ASPProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023676Diseasep.ASN864SERMitochondrial DNA depletion syndrome 4B (MTDPS4B)
Swiss-ProtVAR_058897Diseasep.ASP1184ASNProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_065119Diseasep.ASP1186HISProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
dbSNPrs3087374 Polymorphismp.GLN1236HISN/A
Swiss-ProtVAR_058875Diseasep.GLN308HISProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023669Diseasep.GLN497HISSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_058890Diseasep.GLN879HISMitochondrial DNA depletion syndrome 4A (MTDPS4A)
dbSNPrs2307441 Polymorphismp.GLU1143GLYN/A
Swiss-ProtVAR_065092Diseasep.GLU1136LYSMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_014907Polymorphismp.GLU662LYSN/A
Swiss-ProtVAR_058873Diseasep.GLY268ALAProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023684Diseasep.GLY1051ARGSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_058885Diseasep.GLY737ARGProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058876Diseasep.GLY380ASPProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023678Diseasep.GLY923ASPProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023675Diseasep.GLY848SERProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023685Diseasep.GLY1076VALProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023667Diseasep.GLY431VALProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058879Diseasep.GLY517VALSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_058896Diseasep.HIS1134ARGMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058895Diseasep.HIS1110TYRMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_023679Diseasep.HIS932TYRSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_012154Diseasep.LEU304ARGProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058877Polymorphismp.LEU463PHEN/A
Swiss-ProtVAR_058872Diseasep.LEU244PROMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058898Diseasep.LYS1191ASNMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058882Diseasep.MET603LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058884Diseasep.PRO648ARGProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023671Diseasep.PRO587LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_014904Polymorphismp.PRO18SERN/A
Swiss-ProtVAR_014905Polymorphismp.PRO324SERN/A
Swiss-ProtVAR_058878Diseasep.SER511ASNProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023687Diseasep.SER1104CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023690Diseasep.SER1176LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023664Diseasep.THR251ILEProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_058892Diseasep.THR914PROMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_058891Diseasep.THR885SERMitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-ProtVAR_023666Diseasep.TRP312ARGProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-ProtVAR_023673Diseasep.TRP748SERSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_023674Diseasep.TYR831CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_012156Diseasep.TYR955CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-ProtVAR_023689Diseasep.VAL1106ILEProgressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
OMIM174763.0014 Diseasep.ALA957SERPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1
OMIM174763.0002 Diseasep.ALA467THRPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||SENSORY ATAXIC NEUROPATHY,
OMIM174763.0004 Diseasep.ARG3PROPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE
OMIM174763.0021 Diseasep.ARG227TRPMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
OMIM174763.0005 Diseasep.ARG627TRPSENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
OMIM174763.0018 Diseasep.ARG853TRPPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE
OMIM174763.0012 Diseasep.ASN864SERMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
OMIM174763.0016 Diseasep.GLN497HISSPINOCEREBELLAR ATAXIA WITH EPILEPSY
OMIM174763.0008 Diseasep.GLU873TERMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
OMIM174763.0010 Diseasep.GLY1051ARGSENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
OMIM174763.0019 Diseasep.GLY737ARGPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE
OMIM174763.0006 Diseasep.GLY848SERPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||PROGRESSIVE EXTERNAL OPHTHA
OMIM174763.0009 Diseasep.HIS932TYRSENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
OMIM174763.0003 Diseasep.LEU304ARGPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE
OMIM174763.0022 Diseasep.PRO1073LEUMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)||MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), INCLUDED
OMIM174763.0011 Diseasep.PRO587LEUMITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)||PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETI
OMIM174763.0020 Diseasep.SER511ASNPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1
OMIM174763.0007 Diseasep.THR251ILEPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL RECESSIVE||MITOCHONDRIAL DNA DEPLETION
OMIM174763.0013 Diseasep.TRP748SERSENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS||SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED;;||MITOCHOND
OMIM174763.0017 Diseasep.TRP1020TERMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
OMIM174763.0015 Diseasep.TYR831CYSPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1
OMIM174763.0001 Diseasep.TYR955CYSPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 1



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