P54098
- DPOG1_HUMAN
UniProt
P54098 - DPOG1_HUMAN
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DNA polymerase subunit gamma-1
POLG
- BLAST>sp|P54098|DPOG1_HUMAN DNA polymerase subunit gamma-1 OS=Homo sapiens GN=POLG PE=1 SV=1 MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQ VLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPL PDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGP EGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLS PADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMA ISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVH RLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYK EDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQ QDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTP KLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHC LEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALT ARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQ AGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAA VLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQP FAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWI SLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCIS RALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYL VREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTP SNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP
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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni
<p>Describes the catalytic activity of an enzyme, i.e. the chemical reaction it catalyzes. This information usually correlates with the presence of an EC (Enzyme Commission) number in the ‘Names and taxonomy’ section.</p><p><a href='../manual/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi
<p>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><p><a href='../manual/cofactor' target='_top'>More...</a></p>Cofactori
<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni
- chromatin binding Source: UniProtKB
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- DNA binding Source: UniProtKB-KW
- DNA-directed DNA polymerase activity Source: MGI
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- exonuclease activity Source: Ensembl
- protease binding Source: UniProtKB
<p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactioni
<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi
- aging Source: Ensembl
- base-excision repair, gap-filling Source: MGI
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- DNA biosynthetic process Source: GOC
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- DNA-dependent DNA replication Source: ProtInc
<p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- DNA metabolic process Source: ProtInc
<p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
- mitochondrial DNA replication Source: Ensembl
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Molecular functioni
DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Biological processi
DNA replication<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Ligandi
DNA-binding, Magnesium<p>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><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi
| <p>Provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.</p><p><a href='../manual/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>Indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. 4 distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.</p><p><a href='../manual/gene_name' target='_top'>More...</a></p>Gene namesi | Name:POLG Synonyms:MDP1, POLG1, POLGA |
| <p>Provides information on the name(s) of the organism that is the source of the protein sequence.</p><p><a href='../manual/organism-name' target='_top'>More...</a></p>Organismi | Homo sapiens (Human) |
| <p>Shows the unique identifier assigned by the <span class="caps">NCBI</span> to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.</p><p><a href='../manual/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri | 9606 [NCBI] |
| <p>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><p><a href='../manual/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineagei | cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo |
| <p>Is present for entries that are part of a <a href="/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.</p><p><a href='../manual/proteomes_manual' target='_top'>More...</a></p>Proteomesi | UP000005640: Chromosome 15 |
Organism-specific databases
| Human Gene Nomenclature Database<br/><a href='/database/42'>More..</a>HGNCi | HGNC:9179. POLG. |
<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.6"The layered structure of human mitochondrial DNA nucleoids."
Bogenhagen D.F., Rousseau D., Burke S.
J. Biol. Chem. 283:3665-3675(2008) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, ASSOCIATION WITH MITOCHONDRIAL DNA, IDENTIFICATION BY MASS SPECTROMETRY.
<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.6"The layered structure of human mitochondrial DNA nucleoids."
Bogenhagen D.F., Rousseau D., Burke S.
J. Biol. Chem. 283:3665-3675(2008) [PubMed] [Europe PMC] [Abstract]Cited for: SUBCELLULAR LOCATION, ASSOCIATION WITH MITOCHONDRIAL DNA, IDENTIFICATION BY MASS SPECTROMETRY.
<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><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti
- extracellular vesicular exosome Source: UniProtKB
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- gamma DNA polymerase complex Source: InterPro
- mitochondrial inner membrane Source: Ensembl
- mitochondrial nucleoid Source: BHF-UCL
<p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayi
- mitochondrion Source: ProtInc
<p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementi
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Cellular componenti
Mitochondrion, Mitochondrion nucleoid<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi
<p>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"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 (PEOA1)
[MIM:157640]: A disorder is 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.5 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.8"Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia."
Lamantea E., Tiranti V., Bordoni A., Toscano A., Bono F., Servidei S., Papadimitriou A., Spelbrink H., Silvestri L., Casari G., Comi G.P., Zeviani M.
Ann. Neurol. 52:211-219(2002) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOA1 ASP-923; HIS-943; CYS-955; SER-957 AND LEU-1176, VARIANTS PEO ILE-251; LEU-309 AND SER-848. - Ref.19"A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and parkinsonism."
Mancuso M., Filosto M., Oh S.J., DiMauro S.
Arch. Neurol. 61:1777-1779(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOA1 CYS-831. - Ref.20"Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study."
Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., Oldfors A., Rautakorpi I., Peltonen L., Majamaa K., Somer H., Suomalainen A.
Lancet 364:875-882(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOA1 CYS-953 AND CYS-955, VARIANTS PEOB ASP-468 AND THR-1105. - Ref.33"Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism."
Hudson G., Schaefer A.M., Taylor R.W., Tiangyou W., Gibson A., Venables G., Griffiths P., Burn D.J., Turnbull D.M., Chinnery P.F.
Arch. Neurol. 64:553-557(2007) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOA1 ASN-511, VARIANT PHE-463. - Ref.34"Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia."
Virgilio R., Ronchi D., Hadjigeorgiou G.M., Bordoni A., Saladino F., Moggio M., Adobbati L., Kafetsouli D., Tsironi E., Previtali S., Papadimitriou A., Bresolin N., Comi G.P.
J. Neurol. 255:1384-1391(2008) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOA1 HIS-1186.
Note: The disease is caused by mutations affecting the gene represented in this entry.
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 511 – 511 | 1 | S → N in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
|   | VAR_058878 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 831 – 831 | 1 | Y → C in PEOA1 and MTDPS4A. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs4154971 [ dbSNP | Ensembl ]. | | VAR_023674 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 923 – 923 | 1 | G → D in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023678 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 943 – 943 | 1 | R → H in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023680 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 953 – 953 | 1 | R → C in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs11546842 [ dbSNP | Ensembl ]. | | VAR_023681 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 955 – 955 | 1 | Y → 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. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_012156 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 957 – 957 | 1 | A → S in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023682 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1176 – 1176 | 1 | S → L in PEOA1. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023690 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1186 – 1186 | 1 | D → H in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_065119 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB)
[MIM:258450]: A severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the autosomal dominant forms.14 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.7"Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions."
Van Goethem G., Dermaut B., Loefgren A., Martin J.-J., Van Broeckhoven C.
Nat. Genet. 28:211-212(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB PRO-3; ARG-304; THR-467 AND CYS-955. - Ref.10"Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma."
Filosto M., Mancuso M., Nishigaki Y., Pancrudo J., Harati Y., Gooch C., Mankodi A., Bayne L., Bonilla E., Shanske S., Hirano M., DiMauro S.
Arch. Neurol. 60:1279-1284(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB TRP-579; LEU-587; THR-889 AND VAL-1076, VARIANT HIS-1236. - Ref.12"Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle."
Van Goethem G., Loefgren A., Dermaut B., Ceuterick C., Martin J.-J., Van Broeckhoven C.
Hum. Mutat. 22:175-176(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOB SER-848. - Ref.13"POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions."
Di Fonzo A., Bordoni A., Crimi M., Sara G., Del Bo R., Bresolin N., Comi G.P.
Hum. Mutat. 22:498-499(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB ILE-251; ALA-268; ARG-312; THR-467; GLN-562; LEU-587; PRO-807 AND TYR-932, VARIANTS GLY-1143 AND HIS-1236. - Ref.14"Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)."
Agostino A., Valletta L., Chinnery P.F., Ferrari G., Carrara F., Taylor R.W., Schaefer A.M., Turnbull D.M., Tiranti V., Zeviani M.
Neurology 60:1354-1356(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB TRP-227; ILE-251; ARG-312; VAL-431; THR-467; GLN-1047; CYS-1096 AND CYS-1104. - Ref.16"Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia."
Van Goethem G., Martin J.-J., Dermaut B., Loefgren A., Wibail A., Ververken D., Tack P., Dehaene I., Van Zandijcke M., Moonen M., Ceuterick C., De Jonghe P., Van Broeckhoven C.
Neuromuscul. Disord. 13:133-142(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB PRO-3; ARG-304; THR-467 AND CYS-955, VARIANT SANDO TRP-627. - Ref.18"Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene."
Lamantea E., Zeviani M.
Ann. Neurol. 56:454-455(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB TRP-227; ILE-251 LEU-309; LEU-587; SER-848 ILE-1106 AND LEU-1176. - Ref.20"Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study."
Luoma P., Melberg A., Rinne J.O., Kaukonen J.A., Nupponen N.N., Chalmers R.M., Oldfors A., Rautakorpi I., Peltonen L., Majamaa K., Somer H., Suomalainen A.
Lancet 364:875-882(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOA1 CYS-953 AND CYS-955, VARIANTS PEOB ASP-468 AND THR-1105. - Ref.22"POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement."
Van Goethem G., Luoma P., Rantamaeki M., Al-Memar A., Kaakkola S., Hackman P., Krahe R., Loefgren A., Martin J.-J., De Jonghe P., Suomalainen A., Udd B., Van Broeckhoven C.
Neurology 63:1251-1257(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOB THR-467, VARIANT SANDO SER-748, VARIANT GLY-1143. - Ref.26"Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome."
Luoma P.T., Luo N., Loescher W.N., Farr C.L., Horvath R., Wanschitz J., Kiechl S., Kaguni L.S., Suomalainen A.
Hum. Mol. Genet. 14:1907-1920(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOB THR-467, VARIANT SANDO GLN-627, VARIANT HIS-1236, CHARACTERIZATION OF VARIANT PEOB THR-467, CHARACTERIZATION OF VARIANT SANDO GLN-627. - Ref.28"Early-onset familial parkinsonism due to POLG mutations."
Davidzon G., Greene P., Mancuso M., Klos K.J., Ahlskog J.E., Hirano M., DiMauro S.
Ann. Neurol. 59:859-862(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB ARG-737 AND TRP-853. - Ref.29"Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population."
Gonzalez-Vioque E., Blazquez A., Fernandez-Moreira D., Bornstein B., Bautista J., Arpa J., Navarro C., Campos Y., Fernandez-Moreno M.A., Garesse R., Arenas J., Martin M.A.
Arch. Neurol. 63:107-111(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB LEU-603; TRP-853; CYS-1146 AND ASN-1184. - Ref.30"Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene."
Horvath R., Hudson G., Ferrari G., Fuetterer N., Ahola S., Lamantea E., Prokisch H., Lochmueller H., McFarland R., Ramesh V., Klopstock T., Freisinger P., Salvi F., Mayr J.A., Santer R., Tesarova M., Zeman J., Udd B. , Taylor R.W., Turnbull D., Hanna M., Fialho D., Suomalainen A., Zeviani M., Chinnery P.F.
Brain 129:1674-1684(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB HIS-308; TRP-574 AND ARG-648, VARIANT SANDO VAL-517, VARIANTS MTDPS4A ASP-767; HIS-879; SER-885; PRO-914; HIS-1096 AND ASN-1191. - Ref.31"Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay."
Naiemi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C., Pellissier J.-F., Roetig A., Munnich A., Calvas P., Richelme C., Jonveaux P., Castelnovo G., Simon M., Clanet M., Wallace D., Paquis-Flucklinger V.
Eur. J. Hum. Genet. 14:917-922(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB ARG-304; ASP-380 AND THR-467, VARIANT SANDO SER-748, VARIANT MTDPS4A PRO-914, VARIANTS GLY-1143 AND HIS-1236.
Note: The disease is caused by mutations affecting the gene represented in this entry.
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 3 – 3 | 1 | R → P in PEOB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_012153 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 227 – 227 | 1 | R → W in PEOB and MTDPS4B. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023663 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 251 – 251 | 1 | T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994094 [ dbSNP | Ensembl ]. | | VAR_023664 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 268 – 268 | 1 | G → A in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs61752784 [ dbSNP | Ensembl ]. | | VAR_058873 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 304 – 304 | 1 | L → R in PEOB; also found in SANDO. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_012154 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 304 – 304 | 1 | L → SANDO in PEOB. | | VAR_058874 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 308 – 308 | 1 | Q → H in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058875 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 309 – 309 | 1 | R → L in PEOB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023665 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 312 – 312 | 1 | W → R in PEOB; sporadic case. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023666 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 380 – 380 | 1 | G → D in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058876 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 431 – 431 | 1 | G → V in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023667 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 467 – 467 | 1 | A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994095 [ dbSNP | Ensembl ]. | | VAR_012155 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 468 – 468 | 1 | N → D in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs145843073 [ dbSNP | Ensembl ]. | | VAR_023668 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 562 – 562 | 1 | R → Q in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058880 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 574 – 574 | 1 | R → W in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058881 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 579 – 579 | 1 | R → W in PEOB; autosomal recessive. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023670 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 587 – 587 | 1 | P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994096 [ dbSNP | Ensembl ]. | | VAR_023671 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 603 – 603 | 1 | M → L in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058882 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 648 – 648 | 1 | P → R in PEOB; sporadic case; also in SANDO. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058884 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 737 – 737 | 1 | G → R in PEOB; with absence of progressive external ophthalmoplegia. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs121918054 [ dbSNP | Ensembl ]. | | VAR_058885 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 807 – 807 | 1 | R → P in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058888 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 848 – 848 | 1 | G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023675 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 853 – 853 | 1 | R → W in PEOB; with absence of progressive external ophthalmoplegia. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058889 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 889 – 889 | 1 | A → T in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023677 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 932 – 932 | 1 | H → Y in SANDO and PEOB; sporadic case. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023679 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1047 – 1047 | 1 | R → Q in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023683 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1076 – 1076 | 1 | G → V in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023685 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1096 – 1096 | 1 | R → C in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023686 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1104 – 1104 | 1 | S → C in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023687 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1105 – 1105 | 1 | A → T in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023688 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1106 – 1106 | 1 | V → I in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023689 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1146 – 1146 | 1 | R → C in PEOB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs2307440 [ dbSNP | Ensembl ]. | | VAR_014910 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1184 – 1184 | 1 | D → N in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058897 |
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
[MIM:607459]: A 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. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood.9 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.16"Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia."
Van Goethem G., Martin J.-J., Dermaut B., Loefgren A., Wibail A., Ververken D., Tack P., Dehaene I., Van Zandijcke M., Moonen M., Ceuterick C., De Jonghe P., Van Broeckhoven C.
Neuromuscul. Disord. 13:133-142(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB PRO-3; ARG-304; THR-467 AND CYS-955, VARIANT SANDO TRP-627. - Ref.21"POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness."
Mancuso M., Filosto M., Bellan M., Liguori R., Montagna P., Baruzzi A., DiMauro S., Carelli V.
Neurology 62:316-318(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SANDO TYR-932 AND ARG-1051. - Ref.22"POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement."
Van Goethem G., Luoma P., Rantamaeki M., Al-Memar A., Kaakkola S., Hackman P., Krahe R., Loefgren A., Martin J.-J., De Jonghe P., Suomalainen A., Udd B., Van Broeckhoven C.
Neurology 63:1251-1257(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOB THR-467, VARIANT SANDO SER-748, VARIANT GLY-1143. - Ref.23"Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin."
Hakonen A.H., Heiskanen S., Juvonen V., Lappalainen I., Luoma P.T., Rantamaeki M., Van Goethem G., Loefgren A., Hackman P., Paetau A., Kaakkola S., Majamaa K., Varilo T., Udd B., Kaeaeriaeinen H., Bindoff L.A., Suomalainen A.
Am. J. Hum. Genet. 77:430-441(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT SANDO SER-748, VARIANT GLY-1143. - Ref.26"Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome."
Luoma P.T., Luo N., Loescher W.N., Farr C.L., Horvath R., Wanschitz J., Kiechl S., Kaguni L.S., Suomalainen A.
Hum. Mol. Genet. 14:1907-1920(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT PEOB THR-467, VARIANT SANDO GLN-627, VARIANT HIS-1236, CHARACTERIZATION OF VARIANT PEOB THR-467, CHARACTERIZATION OF VARIANT SANDO GLN-627. - Ref.27"Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations."
Winterthun S., Ferrari G., He L., Taylor R.W., Zeviani M., Turnbull D.M., Engelsen B.A., Moen G., Bindoff L.A.
Neurology 64:1204-1208(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SANDO THR-467; HIS-497 AND SER-748. - Ref.30"Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene."
Horvath R., Hudson G., Ferrari G., Fuetterer N., Ahola S., Lamantea E., Prokisch H., Lochmueller H., McFarland R., Ramesh V., Klopstock T., Freisinger P., Salvi F., Mayr J.A., Santer R., Tesarova M., Zeman J., Udd B. , Taylor R.W., Turnbull D., Hanna M., Fialho D., Suomalainen A., Zeviani M., Chinnery P.F.
Brain 129:1674-1684(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB HIS-308; TRP-574 AND ARG-648, VARIANT SANDO VAL-517, VARIANTS MTDPS4A ASP-767; HIS-879; SER-885; PRO-914; HIS-1096 AND ASN-1191. - Ref.31"Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay."
Naiemi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C., Pellissier J.-F., Roetig A., Munnich A., Calvas P., Richelme C., Jonveaux P., Castelnovo G., Simon M., Clanet M., Wallace D., Paquis-Flucklinger V.
Eur. J. Hum. Genet. 14:917-922(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB ARG-304; ASP-380 AND THR-467, VARIANT SANDO SER-748, VARIANT MTDPS4A PRO-914, VARIANTS GLY-1143 AND HIS-1236. - Ref.32"SANDO: two novel mutations in POLG1 gene."
Gago M.F., Rosas M.J., Guimaraes J., Ferreira M., Vilarinho L., Castro L., Carpenter S.
Neuromuscul. Disord. 16:507-509(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS SANDO ARG-648 AND CYS-807.
Note: The disease is caused by mutations affecting the gene represented in this entry.
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 304 – 304 | 1 | L → R in PEOB; also found in SANDO. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_012154 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 467 – 467 | 1 | A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994095 [ dbSNP | Ensembl ]. | | VAR_012155 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 497 – 497 | 1 | Q → H in SANDO; atypical form with spinocerebellar ataxia and epilepsy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023669 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 517 – 517 | 1 | G → V in SANDO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs61752783 [ dbSNP | Ensembl ]. | | VAR_058879 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 627 – 627 | 1 | R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058883 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 627 – 627 | 1 | R → W in SANDO; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023672 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 648 – 648 | 1 | P → R in PEOB; sporadic case; also in SANDO. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058884 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 748 – 748 | 1 | W → S in SANDO and MTDPS4A; some patients manifest an atypical SANDO form with spinocerebellar ataxia and epilepsy. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023673 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 807 – 807 | 1 | R → C in SANDO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058887 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 932 – 932 | 1 | H → Y in SANDO and PEOB; sporadic case. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023679 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1051 – 1051 | 1 | G → R in SANDO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023684 |
Mitochondrial DNA depletion syndrome 4A (MTDPS4A)
[MIM:203700]: An 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.6 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.17"POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion."
Naviaux R.K., Nguyen K.V.
Ann. Neurol. 55:706-712(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT MTDPS4A THR-467. - Ref.24"POLG mutations and Alpers syndrome."
Davidzon G., Mancuso M., Ferraris S., Quinzii C., Hirano M., Peters H.L., Kirby D., Thorburn D.R., DiMauro S.
Ann. Neurol. 57:921-923(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MTDPS4A SER-748 AND SER-848. - Ref.25"Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA."
Ferrari G., Lamantea E., Donati A., Filosto M., Briem E., Carrara F., Parini R., Simonati A., Santer R., Zeviani M.
Brain 128:723-731(2005) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MTDPS4A GLY-232; PRO-244; ILE-251 THR-467; LEU-587; SER-748 SER-848 AND PRO-957, VARIANT GLY-1143. - Ref.30"Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene."
Horvath R., Hudson G., Ferrari G., Fuetterer N., Ahola S., Lamantea E., Prokisch H., Lochmueller H., McFarland R., Ramesh V., Klopstock T., Freisinger P., Salvi F., Mayr J.A., Santer R., Tesarova M., Zeman J., Udd B. , Taylor R.W., Turnbull D., Hanna M., Fialho D., Suomalainen A., Zeviani M., Chinnery P.F.
Brain 129:1674-1684(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB HIS-308; TRP-574 AND ARG-648, VARIANT SANDO VAL-517, VARIANTS MTDPS4A ASP-767; HIS-879; SER-885; PRO-914; HIS-1096 AND ASN-1191. - Ref.31"Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay."
Naiemi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C., Pellissier J.-F., Roetig A., Munnich A., Calvas P., Richelme C., Jonveaux P., Castelnovo G., Simon M., Clanet M., Wallace D., Paquis-Flucklinger V.
Eur. J. Hum. Genet. 14:917-922(2006) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS PEOB ARG-304; ASP-380 AND THR-467, VARIANT SANDO SER-748, VARIANT MTDPS4A PRO-914, VARIANTS GLY-1143 AND HIS-1236. - Ref.35"Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion."
Taanman J.-W., Rahman S., Pagnamenta A.T., Morris A.A.M., Bitner-Glindzicz M., Wolf N.I., Leonard J.V., Clayton P.T., Schapira A.H.V.
Hum. Mutat. 30:248-254(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS LS HIS-232 AND SER-848, VARIANTS MTDPS4A ILE-251; THR-467; LEU-587; SER-748; CYS-831; SER-848; PRO-914; TYR-1110; ARG-1134 AND LYS-1136, VARIANTS GLY-1143 AND HIS-1236.
Note: The disease is caused by mutations affecting the gene represented in this entry.
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 232 – 232 | 1 | R → G in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058870 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 244 – 244 | 1 | L → P in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058872 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 251 – 251 | 1 | T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994094 [ dbSNP | Ensembl ]. | | VAR_023664 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 467 – 467 | 1 | A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994095 [ dbSNP | Ensembl ]. | | VAR_012155 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 587 – 587 | 1 | P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994096 [ dbSNP | Ensembl ]. | | VAR_023671 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 748 – 748 | 1 | W → S in SANDO and MTDPS4A; some patients manifest an atypical SANDO form with spinocerebellar ataxia and epilepsy. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023673 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 767 – 767 | 1 | A → D in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058886 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 831 – 831 | 1 | Y → C in PEOA1 and MTDPS4A. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs4154971 [ dbSNP | Ensembl ]. | | VAR_023674 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 848 – 848 | 1 | G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023675 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 879 – 879 | 1 | Q → H in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058890 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 885 – 885 | 1 | T → S in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058891 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 914 – 914 | 1 | T → P in MTDPS4A. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058892 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 957 – 957 | 1 | A → P in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058893 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1096 – 1096 | 1 | R → H in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058894 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1110 – 1110 | 1 | H → Y in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058895 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1134 – 1134 | 1 | H → R in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058896 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1136 – 1136 | 1 | E → K in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_065092 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 1191 – 1191 | 1 | K → N in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058898 |
Mitochondrial DNA depletion syndrome 4B (MTDPS4B)
[MIM:613662]: An 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.2 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.11"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy."
Van Goethem G., Schwartz M., Loefgren A., Dermaut B., Van Broeckhoven C., Vissing J.
Eur. J. Hum. Genet. 11:547-549(2003) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MTDPS4B ILE-251; LEU-587 AND SER-864. - Ref.36"Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations."
Giordano C., Powell H., Leopizzi M., de Curtis M., Travaglini C., Sebastiani M., Gallo P., Taylor R.W., d'Amati G.
Neurology 72:1103-1105(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS MTDPS4B TRP-227 AND SER-848.
Note: The disease is caused by mutations affecting the gene represented in this entry.
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 227 – 227 | 1 | R → W in PEOB and MTDPS4B. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023663 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 251 – 251 | 1 | T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994094 [ dbSNP | Ensembl ]. | | VAR_023664 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 587 – 587 | 1 | P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994096 [ dbSNP | Ensembl ]. | | VAR_023671 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 848 – 848 | 1 | G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023675 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 864 – 864 | 1 | N → S in MTDPS4B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023676 |
Leigh syndrome (LS)
[MIM:256000]: An 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.1 Publication<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
- Ref.35"Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion."
Taanman J.-W., Rahman S., Pagnamenta A.T., Morris A.A.M., Bitner-Glindzicz M., Wolf N.I., Leonard J.V., Clayton P.T., Schapira A.H.V.
Hum. Mutat. 30:248-254(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS LS HIS-232 AND SER-848, VARIANTS MTDPS4A ILE-251; THR-467; LEU-587; SER-748; CYS-831; SER-848; PRO-914; TYR-1110; ARG-1134 AND LYS-1136, VARIANTS GLY-1143 AND HIS-1236.
Note: The disease is caused by mutations affecting the gene represented in this entry.
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 232 – 232 | 1 | R → H in LS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058871 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 848 – 848 | 1 | G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023675 |
<p>UniProtKB Keywords constitute a <a target="_top" href="/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>Keywords - Diseasei
Disease mutation, Leigh syndrome, Neurodegeneration, Neuropathy, Progressive external ophthalmoplegiaOrganism-specific databases
| Online Mendelian Inheritance in Man (OMIM)<br/><a href='/database/62'>More..</a>MIMi | 157640. phenotype. 203700. phenotype. 256000. phenotype. 258450. phenotype. 607459. phenotype. 613662. phenotype. |
| Orphanet; a database dedicated to information on rare diseases and orphan drugs<br/><a href='/database/68'>More..</a>Orphaneti | 726. 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. |
| The Pharmacogenetics and Pharmacogenomics Knowledge Base<br/><a href='/database/74'>More..</a>PharmGKBi | PA33500. |
<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi
Molecule processing
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini | 1 – 1239 | 1239 | DNA polymerase subunit gamma-1 | | PRO_0000101270 | Add BLAST |
Proteomic databases
| MaxQB - The MaxQuant DataBase<br/><a href='/database/186'>More..</a>MaxQBi | P54098. |
| PaxDb, a database of protein abundance averages across all three domains of life.<br/><a href='/database/173'>More..</a>PaxDbi | P54098. |
| PeptideAtlas<br/><a href='/database/71'>More..</a>PeptideAtlasi | P54098. |
| PRoteomics IDEntifications database<br/><a href='/database/130'>More..</a>PRIDEi | P54098. |
PTM databases
| Phosphorylation site database<br/><a href='/database/123'>More..</a>PhosphoSitei | P54098. |
<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni
Gene expression databases
| Bgee dataBase for Gene Expression Evolution<br/><a href='/database/133'>More..</a>Bgeei | P54098. |
| CleanEx database of gene expression profiles<br/><a href='/database/8'>More..</a>CleanExi | HS_POLG. |
| ExpressionAtlas, Differential and Baseline Expression<br/><a href='/database/4'>More..</a>ExpressionAtlasi | P54098. baseline and differential. |
| Genevestigator<br/><a href='/database/142'>More..</a>Genevestigatori | P54098. |
Organism-specific databases
| Human Protein Atlas<br/><a href='/database/46'>More..</a>HPAi | HPA056821. |
<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni
<p>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 ‘Function’ section).</p><p><a href='../manual/subunit_structure' target='_top'>More...</a></p>Subunit structurei
<p>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><p><a href='../manual/binary_interactions' target='_top'>More...</a></p>Binary interactionsi
| With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| POLG2 | Q9UHN1 | 9 | EBI-852624,EBI-852642 |
Protein-protein interaction databases
| The Biological General Repository for Interaction Datasets (BioGrid)<br/><a href='/database/184'>More..</a>BioGridi | 111424. 4 interactions. |
| Protein interaction database and analysis system<br/><a href='/database/51'>More..</a>IntActi | P54098. 5 interactions. |
| Molecular INTeraction database<br/><a href='/database/158'>More..</a>MINTi | MINT-4531455. |
| STRING: functional protein association networks<br/><a href='/database/141'>More..</a>STRINGi | 9606.ENSP00000268124. |
<p>Provides information on the tertiary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei
Secondary structure
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 75 – 77 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 83 – 86 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 97 – 105 | 9 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 106 – 111 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 114 – 116 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 135 – 159 | 25 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 179 – 181 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 192 – 195 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 207 – 210 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 224 – 227 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 235 – 237 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 240 – 242 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 243 – 247 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 248 – 251 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 254 – 256 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 260 – 262 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 271 – 274 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 277 – 279 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 296 – 301 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 306 – 317 | 12 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 354 – 360 | 7 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 373 – 376 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 377 – 380 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 385 – 415 | 31 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 422 – 431 | 10 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 440 – 473 | 34 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 483 – 490 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 519 – 521 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 537 – 540 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 541 – 558 | 18 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 559 – 561 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 563 – 568 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 587 – 589 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 592 – 595 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 597 – 604 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 616 – 618 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 627 – 629 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 636 – 644 | 9 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 647 – 671 | 25 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 716 – 721 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 738 – 740 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 755 – 757 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 770 – 775 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 776 – 778 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 784 – 786 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 787 – 810 | 24 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 818 – 821 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 822 – 829 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 833 – 835 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 849 – 851 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 859 – 861 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 875 – 878 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 884 – 890 | 7 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 894 – 906 | 13 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 907 – 909 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 914 – 919 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 924 – 926 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 929 – 937 | 9 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 944 – 955 | 12 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 960 – 969 | 10 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 974 – 990 | 17 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 992 – 995 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 997 – 999 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1001 – 1009 | 9 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1010 – 1013 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1027 – 1030 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1033 – 1035 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1037 – 1040 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined hydrogen-bonded turns within the protein sequence. These elements correspond to the <span class="caps">DSSP</span> secondary structure code ‘T’.</p><p><a href='../manual/turn' target='_top'>More...</a></p>Turni | 1041 – 1046 | 6 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1047 – 1058 | 12 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1061 – 1065 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1068 – 1070 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1093 – 1121 | 29 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1122 – 1124 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1136 – 1143 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1146 – 1168 | 23 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1175 – 1178 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1184 – 1188 | 5 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1193 – 1195 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1200 – 1203 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1207 – 1209 | 3 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined helical regions within the protein sequence.</p><p><a href='../manual/helix' target='_top'>More...</a></p>Helixi | 1220 – 1227 | 8 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | | ||
| <p>Is used to indicate the positions of experimentally determined beta strands within the protein sequence.</p><p><a href='../manual/strand' target='_top'>More...</a></p>Beta strandi | 1232 – 1235 | 4 | Combined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0000244">More…</a></p> Manual assertion inferred from combination of experimental and computational evidencei | |
3D structure databases
|
Select the link destinations: Protein Data Bank Europe<br/><a href='/database/70'>More..</a>PDBei Protein Data Bank Europe<br/><a href='/database/70'>More..</a>RCSB PDBi Protein Data Bank Europe<br/><a href='/database/70'>More..</a>PDBji Links Updated |
| ||||||||||||
| Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase<br/><a href='/database/159'>More..</a>ProteinModelPortali | P54098. | ||||||||||||
| Database of comparative protein structure models<br/><a href='/database/63'>More..</a>ModBasei | Search... | ||||||||||||
| MobiDB: a database of protein disorder and mobility annotations<br/><a href='/database/183'>More..</a>MobiDBi | Search... |
<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi
Compositional bias
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi | 43 – 60 | 18 | Poly-Gln | | Add BLAST | |
| <p>Describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.</p><p><a href='../manual/compbias' target='_top'>More...</a></p>Compositional biasi | 535 – 538 | 4 | Poly-Glu | |
<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi
Phylogenomic databases
| evolutionary genealogy of genes: Non-supervised Orthologous Groups<br/><a href='/database/152'>More..</a>eggNOGi | COG0749. |
| GeneTree<br/><a href='/database/162'>More..</a>GeneTreei | ENSGT00390000000453. |
| The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms<br/><a href='/database/44'>More..</a>HOGENOMi | HOG000176668. |
| The HOVERGEN Database of Homologous Vertebrate Genes<br/><a href='/database/45'>More..</a>HOVERGENi | HBG051400. |
| InParanoid: Eukaryotic Ortholog Groups<br/><a href='/database/146'>More..</a>InParanoidi | P54098. |
| KEGG Orthology (KO)<br/><a href='/database/164'>More..</a>KOi | K02332. |
| Identification of Orthologs from Complete Genome Data<br/><a href='/database/137'>More..</a>OMAi | DWSGQEI. |
| Database of Orthologous Groups<br/><a href='/database/143'>More..</a>OrthoDBi | EOG7T4MJC. |
| Database for complete collections of gene phylogenies<br/><a href='/database/144'>More..</a>PhylomeDBi | P54098. |
Family and domain databases
| Gene3D Structural and Functional Annotation of Protein Families<br/><a href='/database/29'>More..</a>Gene3Di | 3.30.420.10. 2 hits. |
| Integrated resource of protein families, domains and functional sites<br/><a href='/database/52'>More..</a>InterProi | IPR019760. DNA-dir_DNA_pol_A_CS. IPR002297. DNA-dir_DNA_pol_A_mt. IPR016265. DNA-dir_DNA_pol_A_mt_sub. IPR001098. DNA-dir_DNA_pol_A_palm_dom. IPR012337. RNaseH-like_dom. [Graphical view] |
| The PANTHER Classification System<br/><a href='/database/69'>More..</a>PANTHERi | PTHR10267. PTHR10267. 1 hit. |
| Pfam protein domain database<br/><a href='/database/73'>More..</a>Pfami | PF00476. DNA_pol_A. 1 hit. [Graphical view] |
| PIRSF; a whole-protein classification database<br/><a href='/database/79'>More..</a>PIRSFi | PIRSF000797. DNA_pol_mt. 1 hit. |
| Protein Motif fingerprint database; a protein domain database<br/><a href='/database/82'>More..</a>PRINTSi | PR00867. DNAPOLG. |
| Simple Modular Architecture Research Tool; a protein domain database<br/><a href='/database/97'>More..</a>SMARTi | SM00482. POLAc. 1 hit. [Graphical view] |
| Superfamily database of structural and functional annotation<br/><a href='/database/155'>More..</a>SUPFAMi | SSF53098. SSF53098. 3 hits. |
| PROSITE; a protein domain and family database<br/><a href='/database/84'>More..</a>PROSITEi | PS00447. DNA_POLYMERASE_A. 1 hit. [Graphical view] |
<p>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 length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequencei
<p>Indicates if the canonical sequence displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.
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
<p>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="/manual/involvement_in_disease">‘Involvement in disease’</a> subsection.</p><p><a href='../manual/polymorphism' target='_top'>More...</a></p>Polymorphismi
Natural variant
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | Actions |
|---|---|---|---|---|---|---|
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 3 – 3 | 1 | R → P in PEOB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_012153 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 18 – 18 | 1 | P → S. Corresponds to variant rs3087373 [ dbSNP | Ensembl ]. | | VAR_014904 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 55 – 55 | 1 | Q → QQ.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019265 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 55 – 55 | 1 | Q → QQQ.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_019266 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 193 – 193 | 1 | R → Q.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs3176162 [ dbSNP | Ensembl ]. | | VAR_019267 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 227 – 227 | 1 | R → W in PEOB and MTDPS4B. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023663 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 232 – 232 | 1 | R → G in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058870 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 232 – 232 | 1 | R → H in LS. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058871 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 244 – 244 | 1 | L → P in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058872 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 251 – 251 | 1 | T → I in PEOB, MTDPS4A and MTDPS4B. 5 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994094 [ dbSNP | Ensembl ]. | | VAR_023664 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 268 – 268 | 1 | G → A in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs61752784 [ dbSNP | Ensembl ]. | | VAR_058873 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 304 – 304 | 1 | L → R in PEOB; also found in SANDO. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_012154 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 304 – 304 | 1 | L → SANDO in PEOB. | | VAR_058874 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 308 – 308 | 1 | Q → H in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058875 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 309 – 309 | 1 | R → L in PEOB. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023665 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 312 – 312 | 1 | W → R in PEOB; sporadic case. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023666 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 324 – 324 | 1 | P → S. Corresponds to variant rs2307437 [ dbSNP | Ensembl ]. | | VAR_014905 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 380 – 380 | 1 | G → D in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058876 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 431 – 431 | 1 | G → V in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023667 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 463 – 463 | 1 | L → F.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058877 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 467 – 467 | 1 | A → T in PEOB, SANDO and MTDPS4A; results in clearly decreased activity, DNA binding and processivity of the polymerase. 12 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994095 [ dbSNP | Ensembl ]. | | VAR_012155 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 468 – 468 | 1 | N → D in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs145843073 [ dbSNP | Ensembl ]. | | VAR_023668 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 497 – 497 | 1 | Q → H in SANDO; atypical form with spinocerebellar ataxia and epilepsy. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023669 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 511 – 511 | 1 | S → N in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058878 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 517 – 517 | 1 | G → V in SANDO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs61752783 [ dbSNP | Ensembl ]. | | VAR_058879 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 546 – 546 | 1 | R → C.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs2307447 [ dbSNP | Ensembl ]. | | VAR_014906 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 562 – 562 | 1 | R → Q in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058880 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 574 – 574 | 1 | R → W in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058881 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 579 – 579 | 1 | R → W in PEOB; autosomal recessive. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023670 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 587 – 587 | 1 | P → L in PEOB, MTDPS4A and MTDPS4B. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs113994096 [ dbSNP | Ensembl ]. | | VAR_023671 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 603 – 603 | 1 | M → L in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058882 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 627 – 627 | 1 | R → Q in SANDO; shows DNA binding affinity and processivities similar to the controls. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058883 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 627 – 627 | 1 | R → W in SANDO; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023672 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 648 – 648 | 1 | P → R in PEOB; sporadic case; also in SANDO. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058884 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 662 – 662 | 1 | E → K.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs2307450 [ dbSNP | Ensembl ]. | | VAR_014907 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 737 – 737 | 1 | G → R in PEOB; with absence of progressive external ophthalmoplegia. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs121918054 [ dbSNP | Ensembl ]. | | VAR_058885 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 748 – 748 | 1 | W → S in SANDO and MTDPS4A; some patients manifest an atypical SANDO form with spinocerebellar ataxia and epilepsy. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023673 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 767 – 767 | 1 | A → D in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058886 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 807 – 807 | 1 | R → C in SANDO. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058887 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 807 – 807 | 1 | R → P in PEOB; sporadic case. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058888 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 831 – 831 | 1 | Y → C in PEOA1 and MTDPS4A. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
Corresponds to variant rs4154971 [ dbSNP | Ensembl ]. | | VAR_023674 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 848 – 848 | 1 | G → S in PEOB, MTDPS4A, MTDPS4B and LS. 6 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023675 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 853 – 853 | 1 | R → W in PEOB; with absence of progressive external ophthalmoplegia. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058889 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 864 – 864 | 1 | N → S in MTDPS4B. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023676 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 879 – 879 | 1 | Q → H in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058890 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 885 – 885 | 1 | T → S in MTDPS4A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058891 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 889 – 889 | 1 | A → T in PEOB. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023677 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 914 – 914 | 1 | T → P in MTDPS4A. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_058892 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 923 – 923 | 1 | G → D in PEOA1. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
| | VAR_023678 | |
| <p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti | 932 – 932 | 1 | H → Y in SANDO and PEOB; sporadic case. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini
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