The OPA1 gene homepage

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A database from the MITOchondrial DYNamics variation portal "Mitodyn.org".
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, neuropathy, optic, OPA, OPA+, OPA-1, glaucoma, normal tension, susceptibility to
Citation reference(s) PubMed: Ferre, Hum Mutat (2005), PubMed: Ferre, Hum Mutat (2015), PubMed: Le Roux, Orphanet J Rare Dis (2019)
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 978
Unique public DNA variants reported 644
Individuals with public variants 1316
Hidden variants 0
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 August 05, 2021
Version OPA1:210805

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
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+ (atrophy, optic, plus syndrome (OPA+))
OPA-1 (atrophy, optic, type 1 (OPA-1))
glaucoma, normal tension, susceptibility to
HGMD OPA1
GeneCards OPA1
GeneTests OPA1
Orphanet OPA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023887 3 transcript variant 1 NM_015560.2 NP_056375.2 949
00015048 3 transcript variant 8 NM_130837.2 NP_570850.2 910


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