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Protein

DNA polymerase subunit gamma-1

Gene

POLG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • 3'-5' exonuclease activity Source: GO_Central
  • chromatin binding Source: UniProtKB
  • DNA binding Source: UniProtKB-KW
  • DNA-directed DNA polymerase activity Source: MGI
  • protease binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase
Biological processDNA replication
LigandMagnesium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
DNA polymerase subunit gamma-1 (EC:2.7.7.7)
Alternative name(s):
Mitochondrial DNA polymerase catalytic subunit
PolG-alpha
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:POLG
Synonyms:MDP1, POLG1, POLGA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000140521.11

Human Gene Nomenclature Database

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HGNCi
HGNC:9179 POLG

Online Mendelian Inheritance in Man (OMIM)

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MIMi
174763 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P54098

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
See also OMIM:157640
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_058878511S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055EnsemblClinVar.1
Natural variantiVAR_023674831Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar.1
Natural variantiVAR_023678923G → D in PEOA1. 1 Publication1
Natural variantiVAR_023680943R → H in PEOA1. 1 Publication1
Natural variantiVAR_023681953R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842EnsemblClinVar.1
Natural variantiVAR_012156955Y → C in PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type. 5 PublicationsCorresponds to variant dbSNP:rs113994099EnsemblClinVar.1
Natural variantiVAR_023682957A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051EnsemblClinVar.1
Natural variantiVAR_0236901176S → L in PEOA1. 2 PublicationsCorresponds to variant dbSNP:rs776031396EnsemblClinVar.1
Natural variantiVAR_0651191186D → H in PEOA1. 1 Publication1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms.
See also OMIM:258450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0121533R → P in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs121918045EnsemblClinVar.1
Natural variantiVAR_023663227R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar.1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar.1
Natural variantiVAR_058873268G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784EnsemblClinVar.1
Natural variantiVAR_012154304L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044EnsemblClinVar.1
Natural variantiVAR_058874304L → SANDO in PEOB1. 1
Natural variantiVAR_058875308Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599EnsemblClinVar.1
Natural variantiVAR_023665309R → L in PEOB1. 2 Publications1
Natural variantiVAR_023666312W → R in PEOB1; sporadic case. 2 Publications1
Natural variantiVAR_058876380G → D in PEOB1. 1 Publication1
Natural variantiVAR_023667431G → V in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_012155467A → T in PEOB1, SANDO, SCAE and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 13 PublicationsCorresponds to variant dbSNP:rs113994095EnsemblClinVar.1
Natural variantiVAR_023668468N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073EnsemblClinVar.1
Natural variantiVAR_058880562R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs781168350Ensembl.1
Natural variantiVAR_058881574R → W in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs774474723Ensembl.1
Natural variantiVAR_023670579R → W in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs556925652EnsemblClinVar.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar.1
Natural variantiVAR_058882603M → L in PEOB1. 1 Publication1
Natural variantiVAR_058884648P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906EnsemblClinVar.1
Natural variantiVAR_058885737G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054EnsemblClinVar.1
Natural variantiVAR_058888807R → P in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_023675848G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar.1
Natural variantiVAR_058889853R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053EnsemblClinVar.1
Natural variantiVAR_023677889A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580EnsemblClinVar.1
Natural variantiVAR_023679932H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar.1
Natural variantiVAR_0236831047R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281EnsemblClinVar.1
Natural variantiVAR_0236851076G → V in PEOB1. 1 Publication1
Natural variantiVAR_0236861096R → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs201732356EnsemblClinVar.1
Natural variantiVAR_0236871104S → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs1010372555Ensembl.1
Natural variantiVAR_0236881105A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs753410045Ensembl.1
Natural variantiVAR_0236891106V → I in PEOB1. 1 Publication1
Natural variantiVAR_0149101146R → C in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs2307440EnsemblClinVar.1
Natural variantiVAR_0588971184D → N in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs1131691575Ensembl.1
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss.
See also OMIM:607459
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023669497Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar.1
Natural variantiVAR_058879517G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783EnsemblClinVar.1
Natural variantiVAR_058883627R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567EnsemblClinVar.1
Natural variantiVAR_023672627R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046EnsemblClinVar.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar.1
Natural variantiVAR_058887807R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124EnsemblClinVar.1
Natural variantiVAR_023679932H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar.1
Natural variantiVAR_0236841051G → R in SANDO. 1 PublicationCorresponds to variant dbSNP:rs121918049EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive hepatocerebral syndrome due to mitochondrial dysfunction. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis.
See also OMIM:203700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058870232R → G in MTDPS4A. 1 Publication1
Natural variantiVAR_058872244L → P in MTDPS4A. 1 Publication1
Natural variantiVAR_012155467A → T in PEOB1, SANDO, SCAE and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 13 PublicationsCorresponds to variant dbSNP:rs113994095EnsemblClinVar.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar.1
Natural variantiVAR_058886767A → D in MTDPS4A. 1 Publication1
Natural variantiVAR_023674831Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar.1
Natural variantiVAR_058890879Q → H in MTDPS4A. 1 Publication1
Natural variantiVAR_058891885T → S in MTDPS4A. 1 Publication1
Natural variantiVAR_058892914T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686EnsemblClinVar.1
Natural variantiVAR_058893957A → P in MTDPS4A. 1 Publication1
Natural variantiVAR_0588941096R → H in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs368435864EnsemblClinVar.1
Natural variantiVAR_0588951110H → Y in MTDPS4A. 1 Publication1
Natural variantiVAR_0588961134H → R in MTDPS4A. 1 Publication1
Natural variantiVAR_0650921136E → K in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs56047213EnsemblClinVar.1
Natural variantiVAR_0588981191K → N in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs1085307741Ensembl.1
Mitochondrial DNA depletion syndrome 4B (MTDPS4B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive progressive multisystem disorder due to mitochondrial dysfunction. It is clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness.
See also OMIM:613662
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023663227R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar.1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar.1
Natural variantiVAR_023676864N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050EnsemblClinVar.1
Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058871232R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093EnsemblClinVar.1
Natural variantiVAR_023675848G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar.1
Spinocerebellar ataxia with epilepsy (SCAE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.
See also OMIM:607459
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023669497Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Leigh syndrome, Neurodegeneration, Neuropathy, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNET

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DisGeNETi
5428

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
POLG

MalaCards human disease database

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MalaCardsi
POLG
MIMi157640 phenotype
203700 phenotype
256000 phenotype
258450 phenotype
607459 phenotype
613662 phenotype

Open Targets

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OpenTargetsi
ENSG00000140521

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
726 Alpers-Huttenlocher syndrome
254892 Autosomal dominant progressive external ophthalmoplegia
254886 Autosomal recessive progressive external ophthalmoplegia
298 Mitochondrial neurogastrointestinal encephalomyopathy
402082 Progressive myoclonic epilepsy type 5
94125 Recessive mitochondrial ataxia syndrome
70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
254881 Spinocerebellar ataxia with epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33500

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2732

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
POLG

Domain mapping of disease mutations (DMDM)

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DMDMi
1706507

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001012701 – 1239DNA polymerase subunit gamma-1Add BLAST1239

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P54098

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P54098

MaxQB - The MaxQuant DataBase

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MaxQBi
P54098

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P54098

PeptideAtlas

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PeptideAtlasi
P54098

PRoteomics IDEntifications database

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PRIDEi
P54098

ProteomicsDB human proteome resource

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ProteomicsDBi
56642

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54098

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P54098

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000140521 Expressed in 240 organ(s), highest expression level in tendon of biceps brachii

CleanEx database of gene expression profiles

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CleanExi
HS_POLG

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54098 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54098 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA056821

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
POLG2Q9UHN110EBI-852624,EBI-852642

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111424, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-2093 DNA polymerase gamma complex

Protein interaction database and analysis system

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IntActi
P54098, 11 interactors

Molecular INTeraction database

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MINTi
P54098

STRING: functional protein association networks

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STRINGi
9606.ENSP00000268124

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P54098

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11239
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3IKMX-ray3.24A/D70-1239[»]
4ZTUX-ray3.30A30-1239[»]
4ZTZX-ray3.44A30-1239[»]
5C51X-ray3.43A25-1239[»]
5C52X-ray3.64A25-1239[»]
5C53X-ray3.57A25-1239[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54098

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P54098

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi43 – 60Poly-GlnAdd BLAST18
Compositional biasi535 – 538Poly-Glu4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DNA polymerase type-A family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3657 Eukaryota
COG0749 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000000453

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000176668

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051400

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54098

KEGG Orthology (KO)

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KOi
K02332

Identification of Orthologs from Complete Genome Data

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OMAi
PKWYKDL

Database of Orthologous Groups

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OrthoDBi
86850at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P54098

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019760 DNA-dir_DNA_pol_A_CS
IPR002297 DNA-dir_DNA_pol_A_mt
IPR001098 DNA-dir_DNA_pol_A_palm_dom
IPR012337 RNaseH-like_sf

The PANTHER Classification System

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PANTHERi
PTHR10267 PTHR10267, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00476 DNA_pol_A, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF000797 DNA_pol_mt, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00867 DNAPOLG

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00482 POLAc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53098 SSF53098, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00447 DNA_POLYMERASE_A, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 14 potential isoforms that are computationally mapped.Show allAlign All

P54098-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSRLLWRKVA GATVGPGPVP APGRWVSSSV PASDPSDGQR RRQQQQQQQQ
60 70 80 90 100
QQQQQPQQPQ VLSSEGGQLR HNPLDIQMLS RGLHEQIFGQ GGEMPGEAAV
110 120 130 140 150
RRSVEHLQKH GLWGQPAVPL PDVELRLPPL YGDNLDQHFR LLAQKQSLPY
160 170 180 190 200
LEAANLLLQA QLPPKPPAWA WAEGWTRYGP EGEAVPVAIP EERALVFDVE
210 220 230 240 250
VCLAEGTCPT LAVAISPSAW YSWCSQRLVE ERYSWTSQLS PADLIPLEVP
260 270 280 290 300
TGASSPTQRD WQEQLVVGHN VSFDRAHIRE QYLIQGSRMR FLDTMSMHMA
310 320 330 340 350
ISGLSSFQRS LWIAAKQGKH KVQPPTKQGQ KSQRKARRGP AISSWDWLDI
360 370 380 390 400
SSVNSLAEVH RLYVGGPPLE KEPRELFVKG TMKDIRENFQ DLMQYCAQDV
410 420 430 440 450
WATHEVFQQQ LPLFLERCPH PVTLAGMLEM GVSYLPVNQN WERYLAEAQG
460 470 480 490 500
TYEELQREMK KSLMDLANDA CQLLSGERYK EDPWLWDLEW DLQEFKQKKA
510 520 530 540 550
KKVKKEPATA SKLPIEGAGA PGDPMDQEDL GPCSEEEEFQ QDVMARACLQ
560 570 580 590 600
KLKGTTELLP KRPQHLPGHP GWYRKLCPRL DDPAWTPGPS LLSLQMRVTP
610 620 630 640 650
KLMALTWDGF PLHYSERHGW GYLVPGRRDN LAKLPTGTTL ESAGVVCPYR
660 670 680 690 700
AIESLYRKHC LEQGKQQLMP QEAGLAEEFL LTDNSAIWQT VEELDYLEVE
710 720 730 740 750
AEAKMENLRA AVPGQPLALT ARGGPKDTQP SYHHGNGPYN DVDIPGCWFF
760 770 780 790 800
KLPHKDGNSC NVGSPFAKDF LPKMEDGTLQ AGPGGASGPR ALEINKMISF
810 820 830 840 850
WRNAHKRISS QMVVWLPRSA LPRAVIRHPD YDEEGLYGAI LPQVVTAGTI
860 870 880 890 900
TRRAVEPTWL TASNARPDRV GSELKAMVQA PPGYTLVGAD VDSQELWIAA
910 920 930 940 950
VLGDAHFAGM HGCTAFGWMT LQGRKSRGTD LHSKTATTVG ISREHAKIFN
960 970 980 990 1000
YGRIYGAGQP FAERLLMQFN HRLTQQEAAE KAQQMYAATK GLRWYRLSDE
1010 1020 1030 1040 1050
GEWLVRELNL PVDRTEGGWI SLQDLRKVQR ETARKSQWKK WEVVAERAWK
1060 1070 1080 1090 1100
GGTESEMFNK LESIATSDIP RTPVLGCCIS RALEPSAVQE EFMTSRVNWV
1110 1120 1130 1140 1150
VQSSAVDYLH LMLVAMKWLF EEFAIDGRFC ISIHDEVRYL VREEDRYRAA
1160 1170 1180 1190 1200
LALQITNLLT RCMFAYKLGL NDLPQSVAFF SAVDIDRCLR KEVTMDCKTP
1210 1220 1230
SNPTGMERRY GIPQGEALDI YQIIELTKGS LEKRSQPGP
Length:1,239
Mass (Da):139,562
Last modified:October 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2D9ECCD75AD6E01E
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTU7A0A1B0GTU7_HUMAN
DNA polymerase subunit gamma-1
POLG
910Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVT8A0A1B0GVT8_HUMAN
DNA polymerase subunit gamma-1
POLG
382Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCV2H0YCV2_HUMAN
DNA polymerase subunit gamma-1
POLG
233Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTQ6A0A1B0GTQ6_HUMAN
DNA polymerase subunit gamma-1
POLG
482Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW33A0A1B0GW33_HUMAN
DNA polymerase subunit gamma-1
POLG
233Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YD36H0YD36_HUMAN
DNA polymerase subunit gamma-1
POLG
196Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDF1H0YDF1_HUMAN
DNA polymerase subunit gamma-1
POLG
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCD2H0YCD2_HUMAN
DNA polymerase subunit gamma-1
POLG
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFM1A0A0D9SFM1_HUMAN
DNA polymerase subunit gamma-1
POLG
257Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IS91A0A3B3IS91_HUMAN
DNA polymerase subunit gamma-1
POLG
260Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The poly-Gln region seems to be polymorphic.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0121533R → P in PEOB1. 2 PublicationsCorresponds to variant dbSNP:rs121918045EnsemblClinVar.1
Natural variantiVAR_01490418P → S. Corresponds to variant dbSNP:rs3087373EnsemblClinVar.1
Natural variantiVAR_01926555Q → QQ1 Publication1
Natural variantiVAR_01926655Q → QQQ1 Publication1
Natural variantiVAR_019267193R → Q1 PublicationCorresponds to variant dbSNP:rs3176162EnsemblClinVar.1
Natural variantiVAR_023663227R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056EnsemblClinVar.1
Natural variantiVAR_058870232R → G in MTDPS4A. 1 Publication1
Natural variantiVAR_058871232R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093EnsemblClinVar.1
Natural variantiVAR_058872244L → P in MTDPS4A. 1 Publication1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094EnsemblClinVar.1
Natural variantiVAR_058873268G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784EnsemblClinVar.1
Natural variantiVAR_012154304L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044EnsemblClinVar.1
Natural variantiVAR_058874304L → SANDO in PEOB1. 1
Natural variantiVAR_058875308Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599EnsemblClinVar.1
Natural variantiVAR_023665309R → L in PEOB1. 2 Publications1
Natural variantiVAR_023666312W → R in PEOB1; sporadic case. 2 Publications1
Natural variantiVAR_014905324P → S. Corresponds to variant dbSNP:rs2307437EnsemblClinVar.1
Natural variantiVAR_058876380G → D in PEOB1. 1 Publication1
Natural variantiVAR_023667431G → V in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_058877463L → F1 PublicationCorresponds to variant dbSNP:rs150828914EnsemblClinVar.1
Natural variantiVAR_012155467A → T in PEOB1, SANDO, SCAE and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 13 PublicationsCorresponds to variant dbSNP:rs113994095EnsemblClinVar.1
Natural variantiVAR_023668468N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073EnsemblClinVar.1
Natural variantiVAR_023669497Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar.1
Natural variantiVAR_058878511S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055EnsemblClinVar.1
Natural variantiVAR_058879517G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783EnsemblClinVar.1
Natural variantiVAR_014906546R → C1 PublicationCorresponds to variant dbSNP:rs2307447EnsemblClinVar.1
Natural variantiVAR_058880562R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs781168350Ensembl.1
Natural variantiVAR_058881574R → W in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs774474723Ensembl.1
Natural variantiVAR_023670579R → W in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs556925652EnsemblClinVar.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096EnsemblClinVar.1
Natural variantiVAR_058882603M → L in PEOB1. 1 Publication1
Natural variantiVAR_058883627R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567EnsemblClinVar.1
Natural variantiVAR_023672627R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046EnsemblClinVar.1
Natural variantiVAR_058884648P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906EnsemblClinVar.1
Natural variantiVAR_014907662E → K1 PublicationCorresponds to variant dbSNP:rs2307450EnsemblClinVar.1
Natural variantiVAR_058885737G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054EnsemblClinVar.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A; unknown pathological significance. 6 PublicationsCorresponds to variant dbSNP:rs113994097EnsemblClinVar.1
Natural variantiVAR_058886767A → D in MTDPS4A. 1 Publication1
Natural variantiVAR_058887807R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124EnsemblClinVar.1
Natural variantiVAR_058888807R → P in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_023674831Y → C in PEOA1 and MTDPS4A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs41549716EnsemblClinVar.1
Natural variantiVAR_023675848G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098EnsemblClinVar.1
Natural variantiVAR_058889853R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053EnsemblClinVar.1
Natural variantiVAR_023676864N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050EnsemblClinVar.1
Natural variantiVAR_058890879Q → H in MTDPS4A. 1 Publication1
Natural variantiVAR_058891885T → S in MTDPS4A. 1 Publication1
Natural variantiVAR_023677889A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580EnsemblClinVar.1
Natural variantiVAR_058892914T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686EnsemblClinVar.1
Natural variantiVAR_023678923G → D in PEOA1. 1 Publication1
Natural variantiVAR_023679932H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048EnsemblClinVar.1
Natural variantiVAR_023680943R → H in PEOA1. 1 Publication1
Natural variantiVAR_023681953R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842EnsemblClinVar.1
Natural variantiVAR_012156955Y → C in PEOA1; can underlie parkinsonism; 45-fold decrease in apparent binding affinity for the incoming nucleoside triphosphate; 2-fold less accurate for basepair substitutions than wild-type. 5 PublicationsCorresponds to variant dbSNP:rs113994099EnsemblClinVar.1
Natural variantiVAR_058893957A → P in MTDPS4A. 1 Publication1
Natural variantiVAR_023682957A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051EnsemblClinVar.1
Natural variantiVAR_0236831047R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281E