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UniProtKB - P54098 (DPOG1_HUMAN)

Entry version 214 (07 Apr 2021)
Sequence version 1 (01 Oct 1996)
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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%5Fsection">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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P54098

SIGNOR Signaling Network Open Resource

More...SIGNORi		P54098

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:9179, POLG

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		174763, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P54098

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000140521.11

<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

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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
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 and MTDPS4A. 2 PublicationsCorresponds to variant dbSNP:rs201732356Ensembl.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; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs2307440EnsemblClinVar.1
Natural variantiVAR_0588971184D → N in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs1131691575EnsemblClinVar.1
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)9 Publications
The disease is caused by variants 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.
Related information in OMIM
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:rs113994097Ensembl.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)7 Publications
The disease is caused by variants 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.
Related information in OMIM
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:rs113994097Ensembl.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_0236861096R → C in PEOB1 and MTDPS4A. 2 PublicationsCorresponds to variant dbSNP:rs201732356Ensembl.1
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:rs1085307741EnsemblClinVar.1
Mitochondrial DNA depletion syndrome 4B (MTDPS4B)2 Publications
The disease is caused by variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_023669497Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		5428

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

More...GeneReviewsi		POLG

MalaCards human disease database

More...MalaCardsi		POLG
MIMi157640, phenotype
203700, phenotype
256000, phenotype
258450, phenotype
607459, phenotype
613662, phenotype

Open Targets

More...OpenTargetsi		ENSG00000140521

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

More...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

More...PharmGKBi		PA33500

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P54098, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2732

DrugCentral

More...DrugCentrali		P54098

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		POLG

Domain mapping of disease mutations (DMDM)

More...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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001012701 – 1239DNA polymerase subunit gamma-1Add BLAST1239

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P54098

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P54098

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P54098

MaxQB - The MaxQuant DataBase

More...MaxQBi		P54098

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

More...PaxDbi		P54098

PeptideAtlas

More...PeptideAtlasi		P54098

PRoteomics IDEntifications database

More...PRIDEi		P54098

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56642

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P54098

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

More...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

More...Bgeei		ENSG00000140521, Expressed in tendon of biceps brachii and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P54098, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P54098, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000140521, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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 (By similarity).

Interacts with TTC3 (PubMed:29290964).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111424, 70 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2093, Mitochondrial DNA polymerase gamma complex

Protein interaction database and analysis system

More...IntActi		P54098, 25 interactors

Molecular INTeraction database

More...MINTi		P54098

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268124

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P54098

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P54098, protein

<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

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

More...SMRi		P54098

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

More...eggNOGi		KOG3657, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000000453

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001524_2_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P54098

Identification of Orthologs from Complete Genome Data

More...OMAi		DTEVMWK

Database of Orthologous Groups

More...OrthoDBi		86850at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P54098

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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
IPR043502, DNA/RNA_pol_sf
IPR041336, DNApol_Exo
IPR012337, RNaseH-like_sf

The PANTHER Classification System

More...PANTHERi		PTHR10267, PTHR10267, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00476, DNA_pol_A, 1 hit
PF18136, DNApol_Exo, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF000797, DNA_pol_mt, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00867, DNAPOLG

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00482, POLAc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53098, SSF53098, 1 hit
SSF56672, SSF56672, 1 hit

PROSITE; a protein domain and family database

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 16 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 16 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:3 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
995Annotation score:

Annotation score:3 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
1,035Annotation score:

Annotation score:2 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-directed DNA polymerase
POLG
482Annotation score:

Annotation score:2 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-directed DNA polymerase
POLG
233Annotation score:

Annotation score:2 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-directed DNA polymerase
POLG
233Annotation score:

Annotation score:2 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-directed DNA polymerase
POLG
257Annotation score:

Annotation score:2 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>
A0A590UK63A0A590UK63_HUMAN
DNA-directed DNA polymerase
POLG
286Annotation score:

Annotation score:2 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-directed DNA polymerase
POLG
69Annotation score:

Annotation score:2 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-directed DNA polymerase
POLG
68Annotation score:

Annotation score:2 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%5Fin%5Fdisease">'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:rs113994097Ensembl.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 Publications