Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 190 (16 Oct 2019)
Sequence version 3 (25 Nov 2008)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

Dynamin-like 120 kDa protein, mitochondrial

Gene

OPA1

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

Annotation score:5 out of 5

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

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

Dynamin-related GTPase that is essential for normal mitochondrial morphology by regulating the equilibrium between mitochondrial fusion and mitochondrial fission (PubMed:16778770, PubMed:17709429, PubMed:20185555, PubMed:24616225, PubMed:28746876). Coexpression of isoform 1 with shorter alternative products is required for optimal activity in promoting mitochondrial fusion (PubMed:17709429). Binds lipid membranes enriched in negatively charged phospholipids, such as cardiolipin, and promotes membrane tubulation (PubMed:20185555). The intrinsic GTPase activity is low, and is strongly increased by interaction with lipid membranes (PubMed:20185555). Plays a role in remodeling cristae and the release of cytochrome c during apoptosis (By similarity). Proteolytic processing in response to intrinsic apoptotic signals may lead to disassembly of OPA1 oligomers and release of the caspase activator cytochrome C (CYCS) into the mitochondrial intermembrane space (By similarity). Plays a role in mitochondrial genome maintenance (PubMed:20974897, PubMed:18158317).By similarity7 Publications
Dynamin-like 120 kDa protein, form S1: Inactive form produced by cleavage at S1 position by OMA1 following stress conditions that induce loss of mitochondrial membrane potential, leading to negative regulation of mitochondrial fusion.1 Publication
Isoforms that contain the alternative exon 4b (present in isoform 4 and isoform 5) are required for mitochondrial genome maintenance, possibly by anchoring the mitochondrial nucleoids to the inner mitochondrial membrane.1 Publication

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by guanine nucleotide exchange factor RCC1L.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi295 – 302GTPSequence analysis8
Nucleotide bindingi398 – 402GTPSequence analysis5
Nucleotide bindingi467 – 470GTPSequence analysis4

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

GO - Biological processi

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

Molecular functionHydrolase
Biological processApoptosis, Sensory transduction, Vision
LigandGTP-binding, Lipid-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-169911 Regulation of Apoptosis

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.N.6.1.2 the mitochondrial inner/outer membrane fusion (mmf) family

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dynamin-like 120 kDa protein, mitochondrial (EC:3.6.5.52 Publications)
Alternative name(s):
Optic atrophy protein 1
Cleaved into the following chain:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OPA12 PublicationsImported
Synonyms:KIAA0567
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8140 OPA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605290 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60313

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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini88 – 96Mitochondrial matrixBy similarity9
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei97 – 113HelicalSequence analysisAdd BLAST17
Topological domaini114 – 960Mitochondrial intermembraneBy similarityAdd BLAST847

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

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

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

Optic atrophy 1 (OPA1)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA1 is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disk pallor, color vision deficits, and centrocecal scotoma of variable density.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0608258A → S in OPA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs794726939EnsemblClinVar.1
Natural variantiVAR_02292338 – 43Missing in OPA1. 1 Publication6
Natural variantiVAR_06082680Y → C in OPA1. 1 PublicationCorresponds to variant dbSNP:rs151103940Ensembl.1
Natural variantiVAR_06082795T → M in OPA1. 1 PublicationCorresponds to variant dbSNP:rs201214736Ensembl.1
Natural variantiVAR_060828102Y → C in OPA1. 1 PublicationCorresponds to variant dbSNP:rs530896300Ensembl.1
Natural variantiVAR_060829270E → K in OPA1. 1 Publication1
Natural variantiVAR_060830272L → P in OPA1. 1 Publication1
Natural variantiVAR_060831273D → A in OPA1. 1 Publication1
Natural variantiVAR_011483290R → Q in OPA1. 4 PublicationsCorresponds to variant dbSNP:rs121908375EnsemblClinVar.1
Natural variantiVAR_060832290R → W in OPA1. 1 PublicationCorresponds to variant dbSNP:rs780333963EnsemblClinVar.1
Natural variantiVAR_060833293 – 294Missing in OPA1. 1 Publication2
Natural variantiVAR_011484300G → E in OPA1; loss of GTPase activity; loss of function in promoting mitochondrial fusion. 3 PublicationsCorresponds to variant dbSNP:rs28939082EnsemblClinVar.1
Natural variantiVAR_060834310Q → R in OPA1. 1 PublicationCorresponds to variant dbSNP:rs770966290Ensembl.1
Natural variantiVAR_060835324 – 326Missing in OPA1. 1 Publication3
Natural variantiVAR_072125330T → S in OPA1. 1 Publication1
Natural variantiVAR_060836357A → T in DOA+ and OPA1. 2 PublicationsCorresponds to variant dbSNP:rs190223702Ensembl.1
Natural variantiVAR_072126377V → I in OPA1. 1 PublicationCorresponds to variant dbSNP:rs780922750Ensembl.1
Natural variantiVAR_060837382I → M in OPA1 and BEHRS. 3 PublicationsCorresponds to variant dbSNP:rs143319805EnsemblClinVar.1
Natural variantiVAR_060838384L → F in OPA1. 1 Publication1
Natural variantiVAR_060839396L → P in OPA1. 1 PublicationCorresponds to variant dbSNP:rs727504060Ensembl.1
Natural variantiVAR_022927396L → R in OPA1. 1 PublicationCorresponds to variant dbSNP:rs727504060Ensembl.1
Natural variantiVAR_067355400P → A in OPA1. 1 Publication1
Natural variantiVAR_060840429 – 430Missing in OPA1. 1 Publication2
Natural variantiVAR_060841430N → D in OPA1. 1 Publication1
Natural variantiVAR_011485432Missing in OPA1. 2 Publications1
Natural variantiVAR_060842438D → V in OPA1. 1 Publication1
Natural variantiVAR_072127439G → V in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 3 PublicationsCorresponds to variant dbSNP:rs387906900EnsemblClinVar.1
Natural variantiVAR_015741445R → H in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 5 PublicationsCorresponds to variant dbSNP:rs80356529EnsemblClinVar.1
Natural variantiVAR_060843449T → R in OPA1. 1 Publication1
Natural variantiVAR_072129459G → E in OPA1. 1 Publication1
Natural variantiVAR_060844463I → IFIF in OPA1. 1
Natural variantiVAR_060845468K → E in OPA1. 1 Publication1
Natural variantiVAR_060846470D → G in OPA1. 1 Publication1
Natural variantiVAR_060847487E → K in OPA1 and BEHRS. 2 Publications1
Natural variantiVAR_022928503T → K in OPA1. 2 Publications1
Natural variantiVAR_060848505K → N in OPA1. 1 Publication1
Natural variantiVAR_026533545S → R in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 5 PublicationsCorresponds to variant dbSNP:rs398124298EnsemblClinVar.1
Natural variantiVAR_060851551C → Y in OPA1 and DOA+. 2 PublicationsCorresponds to variant dbSNP:rs879255592EnsemblClinVar.1
Natural variantiVAR_060850551Missing in OPA1. 1 Publication1
Natural variantiVAR_022929571R → H in OPA1. 1 PublicationCorresponds to variant dbSNP:rs140606054EnsemblClinVar.1
Natural variantiVAR_060852574L → P in OPA1. 1 Publication1
Natural variantiVAR_022930586 – 589Missing in OPA1. 1 Publication4
Natural variantiVAR_060854590R → Q in OPA1. 1 PublicationCorresponds to variant dbSNP:rs147077380Ensembl.1
Natural variantiVAR_060855590R → W in OPA1. 1 PublicationCorresponds to variant dbSNP:rs778998909Ensembl.1
Natural variantiVAR_060856593L → P in OPA1. 1 Publication1
Natural variantiVAR_072131593Missing in OPA1. 1 Publication1
Natural variantiVAR_060857646S → L in OPA1. 1 Publication1
Natural variantiVAR_060858700 – 701Missing in OPA1. 1 Publication2
Natural variantiVAR_060859728N → K in OPA1; loss of function in promoting mitochondrial fusion. 2 PublicationsCorresponds to variant dbSNP:rs1292852465Ensembl.1
Natural variantiVAR_060860768G → D in OPA1. 1 Publication1
Natural variantiVAR_060861781R → W in OPA1. 1 PublicationCorresponds to variant dbSNP:rs190235251EnsemblClinVar.1
Natural variantiVAR_060862785Q → R in OPA1; loss of lipid binding and partial loss of function in promoting mitochondrial fusion. 3 PublicationsCorresponds to variant dbSNP:rs1064797302EnsemblClinVar.1
Natural variantiVAR_060863823S → Y in OPA1. 1 Publication1
Natural variantiVAR_060864841Y → C in OPA1. 1 Publication1
Natural variantiVAR_060865882R → L in OPA1. 1 Publication1
Natural variantiVAR_060866887L → P in OPA1. 1 Publication1
Natural variantiVAR_072133910Missing in OPA1. 1 Publication1
Natural variantiVAR_060868932R → C in OPA1. 2 PublicationsCorresponds to variant dbSNP:rs145710079Ensembl.1
Natural variantiVAR_028370939L → P in OPA1; impairs protein folding; loss of function in promoting mitochondrial fusion. 2 Publications1
Natural variantiVAR_060869949L → P in OPA1. 2 Publications1
Dominant optic atrophy plus syndrome (DOA+)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060836357A → T in DOA+ and OPA1. 2 PublicationsCorresponds to variant dbSNP:rs190223702Ensembl.1
Natural variantiVAR_072127439G → V in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 3 PublicationsCorresponds to variant dbSNP:rs387906900EnsemblClinVar.1
Natural variantiVAR_015741445R → H in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 5 PublicationsCorresponds to variant dbSNP:rs80356529EnsemblClinVar.1
Natural variantiVAR_072128449T → P in DOA+. 1 Publication1
Natural variantiVAR_026533545S → R in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 5 PublicationsCorresponds to variant dbSNP:rs398124298EnsemblClinVar.1
Natural variantiVAR_060851551C → Y in OPA1 and DOA+. 2 PublicationsCorresponds to variant dbSNP:rs879255592EnsemblClinVar.1
Natural variantiVAR_060853582Y → C in DOA+. 1 PublicationCorresponds to variant dbSNP:rs121908376EnsemblClinVar.1
Natural variantiVAR_072132910V → D in DOA+; impairs protein folding; loss of function in promoting mitochondrial fusion. 2 PublicationsCorresponds to variant dbSNP:rs387906901EnsemblClinVar.1
Behr syndrome (BEHRS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, mental retardation, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060837382I → M in OPA1 and BEHRS. 3 PublicationsCorresponds to variant dbSNP:rs143319805EnsemblClinVar.1
Natural variantiVAR_075903402V → M in BEHRS. 1 PublicationCorresponds to variant dbSNP:rs879255594EnsemblClinVar.1
Natural variantiVAR_060847487E → K in OPA1 and BEHRS. 2 Publications1
Mitochondrial DNA depletion syndrome 14, cardioencephalomyopathic type (MTDPS14)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy. Skeletal muscle biopsies show significant mtDNA depletion and abnormal mitochondria.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075904534L → R in MTDPS14. 1 PublicationCorresponds to variant dbSNP:rs869312995EnsemblClinVar.1

Keywords - Diseasei

Cardiomyopathy, Deafness, Disease mutation, Neurodegeneration, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
4976

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

More...
GeneReviewsi
OPA1

MalaCards human disease database

More...
MalaCardsi
OPA1
MIMi125250 phenotype
165500 phenotype
210000 phenotype
616896 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000198836

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

More...
Orphaneti
1215 Autosomal dominant optic atrophy plus syndrome
98673 Autosomal dominant optic atrophy, classic form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31927

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O60313

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL4105705

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OPA1

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 87MitochondrionBy similarityAdd BLAST87
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000739788 – 960Dynamin-like 120 kDa protein, mitochondrialAdd BLAST873
ChainiPRO_0000253479195 – 960Dynamin-like 120 kDa protein, form S1By similarityAdd BLAST766

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei228N6-acetyllysineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

PARL-dependent proteolytic processing releases an antiapoptotic soluble form not required for mitochondrial fusion. Cleaved by OMA1 at position S1 following stress conditions.1 Publication
Cleavage at position S2 is mediated by YME1L (PubMed:17709429, PubMed:24616225, PubMed:27495975). Cleavage may occur in the sequence motif Leu-Gln-Gln-Gln-Ile-Gln (LQQQIQ) (PubMed:16778770). This motif is present in isoform 2, isoform 3, isoform 4 and isoform 7, but is absent in the displayed isoform 1 and in isoform 5.By similarityCurated4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei194 – 195Cleavage at site S1By similarity2

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O60313

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60313

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O60313

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60313

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

More...
PaxDbi
O60313

PeptideAtlas

More...
PeptideAtlasi
O60313

PRoteomics IDEntifications database

More...
PRIDEi
O60313

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
15297
15298
15300
49340 [O60313-1]
49341 [O60313-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60313

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

More...
PhosphoSitePlusi
O60313

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O60313

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
O60313

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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in retina. Also expressed in brain, testis, heart and skeletal muscle. Isoform 1 expressed in retina, skeletal muscle, heart, lung, ovary, colon, thyroid gland, leukocytes and fetal brain. Isoform 2 expressed in colon, liver, kidney, thyroid gland and leukocytes. Low levels of all isoforms expressed in a variety of tissues.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000198836 Expressed in 227 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O60313 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O60313 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036926
HPA036927

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

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

Oligomeric complex consisting of membrane-bound and soluble forms of OPA1.

Interacts with RCC1L; this interaction is direct (PubMed:28746876).

Interacts with CHCHD3 and IMMT; these interactions occur preferentially with soluble OPA1 forms (PubMed:21081504). Binds PARL (By similarity).

Interacts with PRELID1 (PubMed:21364629).

By similarity4 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111024, 77 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O60313

Protein interaction database and analysis system

More...
IntActi
O60313, 37 interactors

Molecular INTeraction database

More...
MINTi
O60313

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000354681

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

3D structure databases

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

More...
SMRi
O60313

Database of comparative protein structure models

More...
ModBasei
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini285 – 561Dynamin-type GPROSITE-ProRule annotationAdd BLAST277

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni295 – 302G1 motifPROSITE-ProRule annotation8
Regioni321 – 324G2 motifPROSITE-ProRule annotation4
Regioni398 – 401G3 motifPROSITE-ProRule annotation4
Regioni467 – 470G4 motifPROSITE-ProRule annotation4
Regioni501 – 504G5 motifPROSITE-ProRule annotation4

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili210 – 254Sequence analysisAdd BLAST45
Coiled coili895 – 960Sequence analysisAdd BLAST66

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

Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0447 Eukaryota
COG0699 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000074851

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000230714

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O60313

KEGG Orthology (KO)

More...
KOi
K17079

Identification of Orthologs from Complete Genome Data

More...
OMAi
YEDWKDG

Database of Orthologous Groups

More...
OrthoDBi
1076876at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O60313

TreeFam database of animal gene trees

More...
TreeFami
TF314250

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08771 DLP_1, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001401 Dynamin_GTPase
IPR022812 Dynamin_SF
IPR030381 G_DYNAMIN_dom
IPR033047 Opa1
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR11566 PTHR11566, 1 hit
PTHR11566:SF67 PTHR11566:SF67, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00350 Dynamin_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00195 DYNAMIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00053 DYNc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51718 G_DYNAMIN_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

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

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.2 Publications

This entry has 6 described isoforms and 18 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60313-1) [UniParc]FASTAAdd to basket
Also known as: 6

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL
60 70 80 90 100
QRPQLRTSFQ QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL
110 120 130 140 150
RYLILGSAVG GGYTAKKTFD QWKDMIPDLS EYKWIVPDIV WEIDEYIDFE
160 170 180 190 200
KIRKALPSSE DLVKLAPDFD KIVESLSLLK DFFTSGSPEE TAFRATDRGS
210 220 230 240 250
ESDKHFRKVS DKEKIDQLQE ELLHTQLKYQ RILERLEKEN KELRKLVLQK
260 270 280 290 300
DDKGIHHRKL KKSLIDMYSE VLDVLSDYDA SYNTQDHLPR VVVVGDQSAG
310 320 330 340 350
KTSVLEMIAQ ARIFPRGSGE MMTRSPVKVT LSEGPHHVAL FKDSSREFDL
360 370 380 390 400
TKEEDLAALR HEIELRMRKN VKEGCTVSPE TISLNVKGPG LQRMVLVDLP
410 420 430 440 450
GVINTVTSGM APDTKETIFS ISKAYMQNPN AIILCIQDGS VDAERSIVTD
460 470 480 490 500
LVSQMDPHGR RTIFVLTKVD LAEKNVASPS RIQQIIEGKL FPMKALGYFA
510 520 530 540 550
VVTGKGNSSE SIEAIREYEE EFFQNSKLLK TSMLKAHQVT TRNLSLAVSD
560 570 580 590 600
CFWKMVRESV EQQADSFKAT RFNLETEWKN NYPRLRELDR NELFEKAKNE
610 620 630 640 650
ILDEVISLSQ VTPKHWEEIL QQSLWERVST HVIENIYLPA AQTMNSGTFN
660 670 680 690 700
TTVDIKLKQW TDKQLPNKAV EVAWETLQEE FSRFMTEPKG KEHDDIFDKL
710 720 730 740 750
KEAVKEESIK RHKWNDFAED SLRVIQHNAL EDRSISDKQQ WDAAIYFMEE
760 770 780 790 800
ALQARLKDTE NAIENMVGPD WKKRWLYWKN RTQEQCVHNE TKNELEKMLK
810 820 830 840 850
CNEEHPAYLA SDEITTVRKN LESRGVEVDP SLIKDTWHQV YRRHFLKTAL
860 870 880 890 900
NHCNLCRRGF YYYQRHFVDS ELECNDVVLF WRIQRMLAIT ANTLRQQLTN
910 920 930 940 950
TEVRRLEKNV KEVLEDFAED GEKKIKLLTG KRVQLAEDLK KVREIQEKLD
960
AFIEALHQEK
Length:960
Mass (Da):111,631
Last modified:November 25, 2008 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1C397109787AEB4D
GO
Isoform 2 (identifier: O60313-2) [UniParc]FASTAAdd to basket
Also known as: 71 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     209-209: V → GLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKV

Note: Proteolytic processing near Gln-220 produces form S2 (PubMed:16778770).
Show »
Length:997
Mass (Da):115,884
Checksum:i5D1F6B9BF800F35E
GO
Isoform 3 (identifier: O60313-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-185: Missing.
     206-206: F → FRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQK

Show »
Length:961
Mass (Da):111,822
Checksum:i480D9745E391A211
GO
Isoform 4 (identifier: O60313-10) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-186: G → GHKLVSEVIGASDLLLLLG
     206-206: F → FRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQK

Note: Contains the alternative exon 4b that is important for mitochondrial genome maintenance.
Show »
Length:1,015
Mass (Da):117,744
Checksum:iEB0634781A361289
GO
Isoform 5 (identifier: O60313-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-186: G → GHKLVSEVIGASDLLLLLG

Note: Contains the alternative exon 4b that is important for mitochondrial genome maintenance.
Show »
Length:978
Mass (Da):113,490
Checksum:i01B39D2C9506BCC6
GO
Isoform 7 (identifier: O60313-13) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     150-185: Missing.

Show »
Length:924
Mass (Da):107,568
Checksum:iAE80002FC50AAB14
GO

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

There are 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5KLJ9E5KLJ9_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1 hCG_17270
979Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JMB8C9JMB8_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
972Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y3X5A0A2R8Y3X5_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
854Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4G4A0A2R8Y4G4_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
377Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4Q3A0A2R8Y4Q3_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
412Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YD53A0A2R8YD53_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
569Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDM2A0A2R8YDM2_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
965Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YE54A0A2R8YE54_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
528Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YE78A0A2R8YE78_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
963Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGE5A0A2R8YGE5_HUMAN
Dynamin-like 120 kDa protein, mitoc...
OPA1
664Annotation score:

Annotation score:2 out of 5

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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AF416919 differs from that shown.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0608258A → S in OPA1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs794726939EnsemblClinVar.1
Natural variantiVAR_02292338 – 43Missing in OPA1. 1 Publication6
Natural variantiVAR_06082680Y → C in OPA1. 1 PublicationCorresponds to variant dbSNP:rs151103940Ensembl.1
Natural variantiVAR_06082795T → M in OPA1. 1 PublicationCorresponds to variant dbSNP:rs201214736Ensembl.1
Natural variantiVAR_060828102Y → C in OPA1. 1 PublicationCorresponds to variant dbSNP:rs530896300Ensembl.1
Natural variantiVAR_022924158S → N7 PublicationsCorresponds to variant dbSNP:rs7624750EnsemblClinVar.1
Natural variantiVAR_022925167P → L1 PublicationCorresponds to variant dbSNP:rs754177232Ensembl.1
Natural variantiVAR_022926192A → V3 PublicationsCorresponds to variant dbSNP:rs34307082EnsemblClinVar.1
Natural variantiVAR_060829270E → K in OPA1. 1 Publication1
Natural variantiVAR_060830272L → P in OPA1. 1 Publication1
Natural variantiVAR_060831273D → A in OPA1. 1 Publication1
Natural variantiVAR_011483290R → Q in OPA1. 4 PublicationsCorresponds to variant dbSNP:rs121908375EnsemblClinVar.1
Natural variantiVAR_060832290R → W in OPA1. 1 PublicationCorresponds to variant dbSNP:rs780333963EnsemblClinVar.1
Natural variantiVAR_060833293 – 294Missing in OPA1. 1 Publication2
Natural variantiVAR_011484300G → E in OPA1; loss of GTPase activity; loss of function in promoting mitochondrial fusion. 3 PublicationsCorresponds to variant dbSNP:rs28939082EnsemblClinVar.1
Natural variantiVAR_060834310Q → R in OPA1. 1 PublicationCorresponds to variant dbSNP:rs770966290Ensembl.1
Natural variantiVAR_060835324 – 326Missing in OPA1. 1 Publication3
Natural variantiVAR_072125330T → S in OPA1. 1 Publication1
Natural variantiVAR_060836357A → T in DOA+ and OPA1. 2 PublicationsCorresponds to variant dbSNP:rs190223702Ensembl.1
Natural variantiVAR_072126377V → I in OPA1. 1 PublicationCorresponds to variant dbSNP:rs780922750Ensembl.1
Natural variantiVAR_060837382I → M in OPA1 and BEHRS. 3 PublicationsCorresponds to variant dbSNP:rs143319805EnsemblClinVar.1
Natural variantiVAR_060838384L → F in OPA1. 1 Publication1
Natural variantiVAR_060839396L → P in OPA1. 1 PublicationCorresponds to variant dbSNP:rs727504060Ensembl.1
Natural variantiVAR_022927396L → R in OPA1. 1 PublicationCorresponds to variant dbSNP:rs727504060Ensembl.1
Natural variantiVAR_067355400P → A in OPA1. 1 Publication1
Natural variantiVAR_075903402V → M in BEHRS. 1 PublicationCorresponds to variant dbSNP:rs879255594EnsemblClinVar.1
Natural variantiVAR_060840429 – 430Missing in OPA1. 1 Publication2
Natural variantiVAR_060841430N → D in OPA1. 1 Publication1
Natural variantiVAR_011485432Missing in OPA1. 2 Publications1
Natural variantiVAR_060842438D → V in OPA1. 1 Publication1
Natural variantiVAR_072127439G → V in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 3 PublicationsCorresponds to variant dbSNP:rs387906900EnsemblClinVar.1
Natural variantiVAR_015741445R → H in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 5 PublicationsCorresponds to variant dbSNP:rs80356529EnsemblClinVar.1
Natural variantiVAR_072128449T → P in DOA+. 1 Publication1
Natural variantiVAR_060843449T → R in OPA1. 1 Publication1
Natural variantiVAR_072129459G → E in OPA1. 1 Publication1
Natural variantiVAR_060844463I → IFIF in OPA1. 1
Natural variantiVAR_060845468K → E in OPA1. 1 Publication1
Natural variantiVAR_060846470D → G in OPA1. 1 Publication1
Natural variantiVAR_060847487E → K in OPA1 and BEHRS. 2 Publications1
Natural variantiVAR_072130502V → G1 Publication1
Natural variantiVAR_022928503T → K in OPA1. 2 Publications1
Natural variantiVAR_060848505K → N in OPA1. 1 Publication1
Natural variantiVAR_075904534L → R in MTDPS14. 1 PublicationCorresponds to variant dbSNP:rs869312995EnsemblClinVar.1
Natural variantiVAR_026533545S → R in DOA+ and OPA1; decreased GTPase activity; loss of function in promoting mitochondrial fusion. 5 PublicationsCorresponds to variant dbSNP:rs398124298EnsemblClinVar.1
Natural variantiVAR_060849550D → N1 Publication1
Natural variantiVAR_060851551C → Y in OPA1 and DOA+. 2 PublicationsCorresponds to variant dbSNP:rs879255592EnsemblClinVar.1
Natural variantiVAR_060850551Missing in OPA1. 1 Publication1
Natural variantiVAR_022929571R → H in OPA1. 1 PublicationCorresponds to variant dbSNP:rs140606054EnsemblClinVar.1
Natural variantiVAR_060852574L → P in OPA1. 1 Publication1
Natural variantiVAR_060853582Y → C in DOA+. 1 Publication