Results for the protein: P54098

Results for the Protein: P54098

1706507

5428

POLG

NCBI, UniProt

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 ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_058886	Disease	p.ALA767ASP	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058893	Disease	p.ALA957PRO	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_023682	Disease	p.ALA957SER	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023688	Disease	p.ALA1105THR	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_012155	Disease	p.ALA467THR	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_023677	Disease	p.ALA889THR	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023686	Disease	p.ARG1096CYS	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_014910	Disease	p.ARG1146CYS	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_014906	Polymorphism	p.ARG546CYS	N/A
Swiss-Prot	VAR_058887	Disease	p.ARG807CYS	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_023681	Disease	p.ARG953CYS	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023683	Disease	p.ARG1047GLN	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_019267	Polymorphism	p.ARG193GLN	N/A
Swiss-Prot	VAR_058880	Disease	p.ARG562GLN	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058883	Disease	p.ARG627GLN	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_058870	Disease	p.ARG232GLY	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058894	Disease	p.ARG1096HIS	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058871	Disease	p.ARG232HIS	Leigh syndrome (LS)
Swiss-Prot	VAR_023680	Disease	p.ARG943HIS	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023665	Disease	p.ARG309LEU	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_012153	Disease	p.ARG3PRO	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058888	Disease	p.ARG807PRO	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_014908	Polymorphism	p.ARG1142TRP	N/A
Swiss-Prot	VAR_023663	Disease	p.ARG227TRP	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058881	Disease	p.ARG574TRP	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023670	Disease	p.ARG579TRP	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023672	Disease	p.ARG627TRP	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_058889	Disease	p.ARG853TRP	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023668	Disease	p.ASN468ASP	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023676	Disease	p.ASN864SER	Mitochondrial DNA depletion syndrome 4B (MTDPS4B)
Swiss-Prot	VAR_058897	Disease	p.ASP1184ASN	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_065119	Disease	p.ASP1186HIS	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
dbSNP	rs3087374	Polymorphism	p.GLN1236HIS	N/A
Swiss-Prot	VAR_058875	Disease	p.GLN308HIS	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023669	Disease	p.GLN497HIS	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_058890	Disease	p.GLN879HIS	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
dbSNP	rs2307441	Polymorphism	p.GLU1143GLY	N/A
Swiss-Prot	VAR_065092	Disease	p.GLU1136LYS	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_014907	Polymorphism	p.GLU662LYS	N/A
Swiss-Prot	VAR_058873	Disease	p.GLY268ALA	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023684	Disease	p.GLY1051ARG	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_058885	Disease	p.GLY737ARG	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058876	Disease	p.GLY380ASP	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023678	Disease	p.GLY923ASP	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023675	Disease	p.GLY848SER	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023685	Disease	p.GLY1076VAL	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023667	Disease	p.GLY431VAL	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058879	Disease	p.GLY517VAL	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_058896	Disease	p.HIS1134ARG	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058895	Disease	p.HIS1110TYR	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_023679	Disease	p.HIS932TYR	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_012154	Disease	p.LEU304ARG	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058877	Polymorphism	p.LEU463PHE	N/A
Swiss-Prot	VAR_058872	Disease	p.LEU244PRO	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058898	Disease	p.LYS1191ASN	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058882	Disease	p.MET603LEU	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058884	Disease	p.PRO648ARG	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023671	Disease	p.PRO587LEU	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_014904	Polymorphism	p.PRO18SER	N/A
Swiss-Prot	VAR_014905	Polymorphism	p.PRO324SER	N/A
Swiss-Prot	VAR_058878	Disease	p.SER511ASN	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023687	Disease	p.SER1104CYS	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023690	Disease	p.SER1176LEU	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023664	Disease	p.THR251ILE	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_058892	Disease	p.THR914PRO	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_058891	Disease	p.THR885SER	Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
Swiss-Prot	VAR_023666	Disease	p.TRP312ARG	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
Swiss-Prot	VAR_023673	Disease	p.TRP748SER	Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-Prot	VAR_023674	Disease	p.TYR831CYS	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_012156	Disease	p.TYR955CYS	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
Swiss-Prot	VAR_023689	Disease	p.VAL1106ILE	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
OMIM	174763.0014	Disease	p.ALA957SER	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL DOMINANT, 1
OMIM	174763.0002	Disease	p.ALA467THR	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE\|\|SENSORY ATAXIC NEUROPATHY,
OMIM	174763.0004	Disease	p.ARG3PRO	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE
OMIM	174763.0021	Disease	p.ARG227TRP	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
OMIM	174763.0005	Disease	p.ARG627TRP	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
OMIM	174763.0018	Disease	p.ARG853TRP	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE
OMIM	174763.0012	Disease	p.ASN864SER	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
OMIM	174763.0016	Disease	p.GLN497HIS	SPINOCEREBELLAR ATAXIA WITH EPILEPSY
OMIM	174763.0008	Disease	p.GLU873TER	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
OMIM	174763.0010	Disease	p.GLY1051ARG	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
OMIM	174763.0019	Disease	p.GLY737ARG	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE
OMIM	174763.0006	Disease	p.GLY848SER	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE\|\|PROGRESSIVE EXTERNAL OPHTHA
OMIM	174763.0009	Disease	p.HIS932TYR	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
OMIM	174763.0003	Disease	p.LEU304ARG	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE
OMIM	174763.0022	Disease	p.PRO1073LEU	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)\|\|MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), INCLUDED
OMIM	174763.0011	Disease	p.PRO587LEU	MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)\|\|PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETI
OMIM	174763.0020	Disease	p.SER511ASN	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL DOMINANT, 1
OMIM	174763.0007	Disease	p.THR251ILE	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL RECESSIVE\|\|MITOCHONDRIAL DNA DEPLETION
OMIM	174763.0013	Disease	p.TRP748SER	SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS\|\|SPINOCEREBELLAR ATAXIA WITH EPILEPSY, INCLUDED;;\|\|MITOCHOND
OMIM	174763.0017	Disease	p.TRP1020TER	MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
OMIM	174763.0015	Disease	p.TYR831CYS	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL DOMINANT, 1
OMIM	174763.0001	Disease	p.TYR955CYS	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,\|\|AUTOSOMAL DOMINANT, 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258