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General information
Gene name optic atrophy 1 (autosomal dominant)
Gene symbol OPA1
Chromosome Location 3q28-q29
Database location
Curator Marc FERRE
Database reference for citations Ferre et al., Hum Mutat (2005); Ferre et al., Hum Mutat (2015)
PubMed references View all (unique) PubMed references in the OPA1 database
Date of creation November 13, 2003
Last update August 12, 2017
Version OPA1 170812
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_011605.1
Transcript refseq ID NM_130837.2
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 358
Total number of individuals with variant(s) 396
Total number of variants reported 414
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NOTE Autosomal dominant optic atrophy (ADOA), also known as Kjer's disease is characterized by moderate to severe loss of visual acuity with insidious onset in early childhood, blue-yellow dyschromatopsia and central scotoma. There is a considerable inter- and intra-familial variation in visual acuity, and the penetrance may be as low as about 40%. Estimated disease prevalence is between 1:10,000 in Denmark and 1:50,000 worldwide. Histopathological and electrophysiological studies suggest that the underlying defect is retinal ganglion cell degeneration associated with optic atrophy, as observed in Leberís hereditary optic atrophy (LHON). LHON has a sudden onset of visual loss in both eyes asynchronously and appears at a later age (18-35 yrs), although in atrophic phase is it difficult to distinguish LHON from ADOA without a family history. LHON is maternally transmitted and due to mutations in mitochondrial DNA.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the OPA1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the OPA1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the OPA1 database
Variants with no known pathogenicity Listing of all OPA1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 8140
Entrez Gene 4976
OMIM - Gene 605290
OMIM - Disease #1 Optic Atrophy 1 (OPA1)
OMIM - Disease #2 Optic Atrophy 1 And Deafness
UniProtKB (SwissProt/TrEMBL) O60313
GeneCards OPA1
GeneTests OPA1
External link #1

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