The OPA1 gene homepage logo
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, MTDPS14, neuropathy, optic, NTG, OPA, OPA+, OPA1
Citation reference(s) Journal: Ferré 2005, Journal: Ferré 2015, Journal: Le Roux 2019
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 1245
Unique public DNA variants reported 705
Individuals with public variants 1553
Hidden variants 6
Download all this gene's data Download all data
Notes Mutations in the optic atrophy 1 gene (OPA1; MIM# 605290) are responsible for about 60-80% of the cases of autosomal dominant optic atrophy (DOA, Kjer type; MIM# 165500; characterized by moderate to severe loss of visual acuity, blue-yellow dyschromatopsia and central scotoma). 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. 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.
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 November 27, 2023
Version OPA1:231127

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
HGNC 8140
Entrez Gene 4976
PubMed articles OPA1
OMIM - Gene 605290
OMIM - Diseases BEHRS (Behr syndrome (BEHRS))
MTDPS14 (mitochondrial DNA depletion syndrome, type 14 (MTDPS-14))
NTG (glaucoma, normal tension, susceptibility to)
OPA+ (atrophy, optic, plus syndrome (OPA+))
OPA1 (atrophy, optic, type 1 (OPA-1))
GeneCards OPA1
GeneTests OPA1
Orphanet OPA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00023887 3 transcript variant 1 NM_015560.2 NP_056375.2 1192
00015048 3 transcript variant 8 NM_130837.2 NP_570850.2 984

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