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UniProtKB - P54098 (DPOG1_HUMAN)

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Protein

DNA polymerase subunit gamma-1

Gene

POLG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).

Cofactori

Mg2+

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • aging Source: Ensembl
  • base-excision repair, gap-filling Source: MGI
  • cellular response to glucose stimulus Source: Ensembl
  • DNA-dependent DNA replication Source: ProtInc
  • DNA metabolic process Source: ProtInc
  • mitochondrial DNA replication Source: GO_Central
  • response to gamma radiation Source: Ensembl
  • response to hyperoxia Source: Ensembl
  • response to light stimulus Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

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

Names & Taxonomyi

Protein namesi
Recommended name:
DNA polymerase subunit gamma-1 (EC:2.7.7.7)
Alternative name(s):
Mitochondrial DNA polymerase catalytic subunit
PolG-alpha
Gene namesi
Name:POLG
Synonyms:MDP1, POLG1, POLGA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000140521.11.
HGNCiHGNC:9179. POLG.
MIMi174763. gene.
neXtProtiNX_P54098.

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

Pathology & Biotechi

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
Natural variantiVAR_058878511S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055Ensembl.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:rs11546842Ensembl.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:rs113994099Ensembl.1
Natural variantiVAR_023682957A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051Ensembl.1
Natural variantiVAR_0236901176S → L in PEOA1. 2 PublicationsCorresponds to variant dbSNP:rs776031396Ensembl.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:rs121918045Ensembl.1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094Ensembl.1
Natural variantiVAR_058873268G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784Ensembl.1
Natural variantiVAR_012154304L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044Ensembl.1
Natural variantiVAR_058874304L → SANDO in PEOB1. 1
Natural variantiVAR_058875308Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599Ensembl.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:rs113994095Ensembl.1
Natural variantiVAR_023668468N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073Ensembl.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:rs556925652Ensembl.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096Ensembl.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:rs796052906Ensembl.1
Natural variantiVAR_058885737G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054Ensembl.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:rs113994098Ensembl.1
Natural variantiVAR_058889853R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053Ensembl.1
Natural variantiVAR_023677889A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs763393580Ensembl.1
Natural variantiVAR_0236831047R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281Ensembl.1
Natural variantiVAR_0236851076G → V in PEOB1. 1 Publication1
Natural variantiVAR_0236861096R → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs201732356Ensembl.1
Natural variantiVAR_0236871104S → C in PEOB1; sporadic case. 1 Publication1
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:rs2307440Ensembl.1
Natural variantiVAR_0588971184D → N in PEOB1. 1 Publication1
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_058879517G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783Ensembl.1
Natural variantiVAR_058883627R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 PublicationCorresponds to variant dbSNP:rs375305567Ensembl.1
Natural variantiVAR_023672627R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046Ensembl.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A. 6 PublicationsCorresponds to variant dbSNP:rs113994097Ensembl.1
Natural variantiVAR_058887807R → C in SANDO. 1 PublicationCorresponds to variant dbSNP:rs769827124Ensembl.1
Natural variantiVAR_0236841051G → R in SANDO. 1 PublicationCorresponds to variant dbSNP:rs121918049Ensembl.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_058886767A → D in MTDPS4A. 1 Publication1
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:rs139590686Ensembl.1
Natural variantiVAR_058893957A → P in MTDPS4A. 1 Publication1
Natural variantiVAR_0588941096R → H in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs368435864Ensembl.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:rs56047213Ensembl.1
Natural variantiVAR_0588981191K → N in MTDPS4A. 1 Publication1
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_023676864N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050Ensembl.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:rs113994093Ensembl.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

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi5428.
GeneReviewsiPOLG.
MalaCardsiPOLG.
MIMi157640. phenotype.
203700. phenotype.
256000. phenotype.
258450. phenotype.
607459. phenotype.
613662. phenotype.
OpenTargetsiENSG00000140521.
Orphaneti726. Alpers syndrome.
254892. Autosomal dominant progressive external ophthalmoplegia.
254886. Autosomal recessive progressive external ophthalmoplegia.
298. Mitochondrial neurogastrointestinal encephalomyopathy.
94125. Recessive mitochondrial ataxia syndrome.
70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
254881. Spinocerebellar ataxia with epilepsy.
PharmGKBiPA33500.

Chemistry databases

ChEMBLiCHEMBL2732.

Polymorphism and mutation databases

BioMutaiPOLG.
DMDMi1706507.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001012701 – 1239DNA polymerase subunit gamma-1Add BLAST1239

Proteomic databases

EPDiP54098.
MaxQBiP54098.
PaxDbiP54098.
PeptideAtlasiP54098.
PRIDEiP54098.

PTM databases

iPTMnetiP54098.
PhosphoSitePlusiP54098.

Expressioni

Gene expression databases

BgeeiENSG00000140521.
CleanExiHS_POLG.
ExpressionAtlasiP54098. baseline and differential.
GenevisibleiP54098. HS.

Organism-specific databases

HPAiHPA056821.

Interactioni

Subunit structurei

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

Binary interactionsi

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

GO - Molecular functioni

  • protease binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111424. 22 interactors.
IntActiP54098. 7 interactors.
MINTiP54098.
STRINGi9606.ENSP00000268124.

Chemistry databases

BindingDBiP54098.

Structurei

Secondary structure

11239
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi75 – 77Combined sources3
Helixi83 – 86Combined sources4
Helixi97 – 105Combined sources9
Turni106 – 111Combined sources6
Beta strandi114 – 116Combined sources3
Beta strandi132 – 134Combined sources3
Helixi135 – 159Combined sources25
Beta strandi173 – 178Combined sources6
Beta strandi179 – 181Combined sources3
Beta strandi184 – 189Combined sources6
Beta strandi192 – 195Combined sources4
Beta strandi198 – 201Combined sources4
Helixi203 – 205Combined sources3
Beta strandi207 – 210Combined sources4
Helixi224 – 227Combined sources4
Beta strandi235 – 237Combined sources3
Beta strandi240 – 242Combined sources3
Turni243 – 247Combined sources5
Helixi248 – 251Combined sources4
Beta strandi254 – 256Combined sources3
Beta strandi260 – 262Combined sources3
Beta strandi265 – 268Combined sources4
Beta strandi271 – 274Combined sources4
Helixi277 – 279Combined sources3
Beta strandi282 – 285Combined sources4
Beta strandi290 – 293Combined sources4
Helixi296 – 301Combined sources6
Helixi306 – 317Combined sources12
Helixi347 – 349Combined sources3
Helixi356 – 360Combined sources5
Beta strandi373 – 376Combined sources4
Turni377 – 380Combined sources4
Helixi385 – 415Combined sources31
Helixi422 – 431Combined sources10
Beta strandi435 – 438Combined sources4
Helixi440 – 473Combined sources34
Helixi478 – 480Combined sources3
Helixi483 – 490Combined sources8
Beta strandi503 – 505Combined sources3
Beta strandi519 – 521Combined sources3
Beta strandi537 – 540Combined sources4
Helixi541 – 558Combined sources18
Beta strandi559 – 561Combined sources3
Beta strandi563 – 568Combined sources6
Helixi571 – 575Combined sources5
Beta strandi587 – 589Combined sources3
Turni592 – 595Combined sources4
Turni597 – 604Combined sources8
Beta strandi607 – 610Combined sources4
Beta strandi616 – 618Combined sources3
Beta strandi627 – 629Combined sources3
Helixi636 – 644Combined sources9
Helixi647 – 671Combined sources25
Helixi716 – 721Combined sources6
Turni738 – 740Combined sources3
Beta strandi743 – 745Combined sources3
Turni755 – 757Combined sources3
Helixi770 – 775Combined sources6
Beta strandi776 – 778Combined sources3
Beta strandi784 – 786Combined sources3
Helixi787 – 810Combined sources24
Beta strandi818 – 821Combined sources4
Turni822 – 829Combined sources8
Beta strandi833 – 835Combined sources3
Beta strandi837 – 840Combined sources4
Beta strandi845 – 848Combined sources4
Turni849 – 851Combined sources3
Beta strandi853 – 855Combined sources3
Helixi859 – 861Combined sources3
Beta strandi867 – 869Combined sources3
Turni870 – 873Combined sources4
Helixi875 – 878Combined sources4
Beta strandi884 – 890Combined sources7
Helixi894 – 906Combined sources13
Beta strandi907 – 909Combined sources3
Turni914 – 919Combined sources6
Turni924 – 926Combined sources3
Helixi929 – 937Combined sources9
Helixi944 – 955Combined sources12
Helixi960 – 969Combined sources10
Helixi974 – 990Combined sources17
Beta strandi992 – 995Combined sources4
Beta strandi997 – 999Combined sources3
Helixi1001 – 1009Combined sources9
Beta strandi1010 – 1013Combined sources4
Helixi1027 – 1030Combined sources4
Beta strandi1033 – 1035Combined sources3
Helixi1037 – 1040Combined sources4
Turni1041 – 1046Combined sources6
Helixi1047 – 1058Combined sources12
Beta strandi1061 – 1065Combined sources5
Beta strandi1068 – 1070Combined sources3
Turni1073 – 1075Combined sources3
Turni1081 – 1083Combined sources3
Helixi1093 – 1121Combined sources29
Beta strandi1122 – 1124Combined sources3
Beta strandi1130 – 1133Combined sources4
Beta strandi1136 – 1143Combined sources8
Helixi1146 – 1168Combined sources23
Helixi1175 – 1178Combined sources4
Beta strandi1184 – 1188Combined sources5
Helixi1193 – 1195Combined sources3
Beta strandi1200 – 1203Combined sources4
Beta strandi1207 – 1209Combined sources3
Helixi1220 – 1227Combined sources8
Beta strandi1232 – 1235Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliP54098.
SMRiP54098.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi43 – 60Poly-GlnAdd BLAST18
Compositional biasi535 – 538Poly-Glu4

Sequence similaritiesi

Belongs to the DNA polymerase type-A family.Curated

Phylogenomic databases

eggNOGiKOG3657. Eukaryota.
COG0749. LUCA.
GeneTreeiENSGT00390000000453.
HOGENOMiHOG000176668.
HOVERGENiHBG051400.
InParanoidiP54098.
KOiK02332.
OMAiGHPGWYR.
OrthoDBiEOG091G028G.
PhylomeDBiP54098.

Family and domain databases

InterProiView 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.
PANTHERiPTHR10267. PTHR10267. 1 hit.
PfamiView protein in Pfam
PF00476. DNA_pol_A. 1 hit.
PIRSFiPIRSF000797. DNA_pol_mt. 1 hit.
PRINTSiPR00867. DNAPOLG.
SMARTiView protein in SMART
SM00482. POLAc. 1 hit.
SUPFAMiSSF53098. SSF53098. 3 hits.
PROSITEiView protein in PROSITE
PS00447. DNA_POLYMERASE_A. 1 hit.

Sequencei

Sequence statusi: Complete.

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
Checksum:i2D9ECCD75AD6E01E
GO

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:rs121918045Ensembl.1
Natural variantiVAR_01490418P → S. Corresponds to variant dbSNP:rs3087373Ensembl.1
Natural variantiVAR_01926555Q → QQ1 Publication1
Natural variantiVAR_01926655Q → QQQ1 Publication1
Natural variantiVAR_019267193R → Q1 PublicationCorresponds to variant dbSNP:rs3176162Ensembl.1
Natural variantiVAR_023663227R → W in PEOB1 and MTDPS4B. 3 PublicationsCorresponds to variant dbSNP:rs121918056Ensembl.1
Natural variantiVAR_058870232R → G in MTDPS4A. 1 Publication1
Natural variantiVAR_058871232R → H in LS. 1 PublicationCorresponds to variant dbSNP:rs113994093Ensembl.1
Natural variantiVAR_058872244L → P in MTDPS4A. 1 Publication1
Natural variantiVAR_023664251T → I in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994094Ensembl.1
Natural variantiVAR_058873268G → A in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs61752784Ensembl.1
Natural variantiVAR_012154304L → R in PEOB1; also found in SANDO. 3 PublicationsCorresponds to variant dbSNP:rs121918044Ensembl.1
Natural variantiVAR_058874304L → SANDO in PEOB1. 1
Natural variantiVAR_058875308Q → H in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs745539599Ensembl.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:rs2307437Ensembl.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:rs150828914Ensembl.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:rs113994095Ensembl.1
Natural variantiVAR_023668468N → D in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs145843073Ensembl.1
Natural variantiVAR_023669497Q → H in SANDO and SCAE. 2 PublicationsCorresponds to variant dbSNP:rs121918052Ensembl.1
Natural variantiVAR_058878511S → N in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918055Ensembl.1
Natural variantiVAR_058879517G → V in SANDO. 1 PublicationCorresponds to variant dbSNP:rs61752783Ensembl.1
Natural variantiVAR_014906546R → C1 PublicationCorresponds to variant dbSNP:rs2307447Ensembl.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:rs556925652Ensembl.1
Natural variantiVAR_023671587P → L in PEOB1, MTDPS4A and MTDPS4B. 6 PublicationsCorresponds to variant dbSNP:rs113994096Ensembl.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:rs375305567Ensembl.1
Natural variantiVAR_023672627R → W in SANDO; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs121918046Ensembl.1
Natural variantiVAR_058884648P → R in PEOB1; sporadic case; also in SANDO. 2 PublicationsCorresponds to variant dbSNP:rs796052906Ensembl.1
Natural variantiVAR_014907662E → K1 PublicationCorresponds to variant dbSNP:rs2307450Ensembl.1
Natural variantiVAR_058885737G → R in PEOB1; with absence of progressive external ophthalmoplegia. 1 PublicationCorresponds to variant dbSNP:rs121918054Ensembl.1
Natural variantiVAR_023673748W → S in SANDO, SCAE and MTDPS4A. 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:rs769827124Ensembl.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:rs41549716Ensembl.1
Natural variantiVAR_023675848G → S in PEOB1, MTDPS4A, MTDPS4B and LS. 6 PublicationsCorresponds to variant dbSNP:rs113994098Ensembl.1
Natural variantiVAR_058889853R → W in PEOB1; with absence of progressive external ophthalmoplegia. 2 PublicationsCorresponds to variant dbSNP:rs121918053Ensembl.1
Natural variantiVAR_023676864N → S in MTDPS4B. 1 PublicationCorresponds to variant dbSNP:rs121918050Ensembl.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:rs763393580Ensembl.1
Natural variantiVAR_058892914T → P in MTDPS4A. 3 PublicationsCorresponds to variant dbSNP:rs139590686Ensembl.1
Natural variantiVAR_023678923G → D in PEOA1. 1 Publication1
Natural variantiVAR_023679932H → Y in SANDO and PEOB1; sporadic case. 2 PublicationsCorresponds to variant dbSNP:rs121918048Ensembl.1
Natural variantiVAR_023680943R → H in PEOA1. 1 Publication1
Natural variantiVAR_023681953R → C in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs11546842Ensembl.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:rs113994099Ensembl.1
Natural variantiVAR_058893957A → P in MTDPS4A. 1 Publication1
Natural variantiVAR_023682957A → S in PEOA1. 1 PublicationCorresponds to variant dbSNP:rs121918051Ensembl.1
Natural variantiVAR_0236831047R → Q in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs768028281Ensembl.1
Natural variantiVAR_0236841051G → R in SANDO. 1 PublicationCorresponds to variant dbSNP:rs121918049Ensembl.1
Natural variantiVAR_0236851076G → V in PEOB1. 1 Publication1
Natural variantiVAR_0236861096R → C in PEOB1; sporadic case. 1 PublicationCorresponds to variant dbSNP:rs201732356Ensembl.1
Natural variantiVAR_0588941096R → H in MTDPS4A. 1 PublicationCorresponds to variant dbSNP:rs368435864Ensembl.1
Natural variantiVAR_0236871104S → C in PEOB1; sporadic case. 1 Publication1
Natural variantiVAR_0236881105A → T in PEOB1. 1 PublicationCorresponds to variant dbSNP:rs753410045Ensembl.1
Natural variantiVAR_0236891106V → I in PEOB1. 1 Publication1
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:rs56047213Ensembl.1