OPA1 gene homepage

A database from the MITOchondrial DYNamics variation portal.
This database is also one of the "Eye disease" gene variant databases.
General information
Gene symbol OPA1
Gene name optic atrophy 1 (autosomal dominant)
Chromosome 3
Chromosomal band q28-q29
Imprinted Not imprinted
Genomic reference LRG_337
Transcript reference NM_015560.2, NM_130837.2
Exon/intron information NM_015560.2 exon/intron table, NM_130837.2 exon/intron table
Associated with diseases BEHRS, MTDPS-14, OPA-1, atrophy, optic, plus syndrome, glaucoma, normal tension, susceptibility to
Citation reference(s) Ferre, Hum Mutat (2005), Ferre, Hum Mutat (2015)
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 587
Unique public DNA variants reported 410
Individuals with public variants 532
Hidden variants 0
Download all this gene's data Download all data
Notes Autosomal dominant optic atrophy (DOA, Kjer type, MIM#165500) is characterized by moderate to severe loss of visual acuity with insidious onset in early childhood, blue-yellow dyschromatopsia and central scotoma. Mutations in the optic atrophy 1 gene (OPA1; MIM#605290) are responsible for about 60-80% of the cases of DOA. The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Estimated disease prevalence is between 1:10,000 in Denmark due to a founder effect and 1:35,000 worldwide. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the "DOA plus" or "DOA+" syndromes (MIM#125250). A phenotype fully compatible with the Behr syndrome (MIM#210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported. This variety of phenotypes is attributed to differences in the OPA1 mutations effects (haplo-insufficiency or dominant negative effect), as well as to the mode of inheritance, which may be mono- or more rarely bi-allelic.
A database from the MITOchondrial DYNamics variation portal.
This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created November 13, 2003
Date last updated July 04, 2018
Version OPA1:180704

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015560.2, NM_130837.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/OPA1
External URL Mitodyn portal
HGNC 8140
Entrez Gene 4976
PubMed articles OPA1
OMIM - Gene 605290
OMIM - Diseases BEHRS (syndrome, Behr (BEHRS))
MTDPS-14 (mitochondrial DNA depletion syndrome, type 14 (MTDPS-14))
OPA-1 (atrophy, optic, type 1 (OPA-1))
atrophy, optic, plus syndrome
glaucoma, normal tension, susceptibility to
HGMD OPA1
GeneCards OPA1
GeneTests OPA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015048 3 transcript variant 8 NM_130837.2 NP_570850.2 585
00023887 3 transcript variant 1 NM_015560.2 NP_056375.2 580


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2003-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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