Please note that the OPA1 database opa1.mitodyn.org has migrated to the LOVD v3.0 platform and moved to the central LOVD servers databases.lovd.nl/shared/genes/OPA1.
Please use now: https://databases.lovd.nl/shared/genes/OPA1
LOVD - Variant listings for OPA1

About this overview [Show]

Patient data (#0000420)
Gender -
Disease ADOA
Age of onset -
Age at last examination -
Duration of disease -
Affected relatives -
Additional features -
Visual acuity -
Evolution of vision loss -
Optic disc -
Cupping -
Color vision -
Visual field -
OCT -
Visual handicap -
Hearing loss -
Pure tone audiometry -
Auditory brainstem responses -
Otoacoustic emission -
Functional disability -
Clinical score -
Electroneuromyography -
Histology -
Brain imaging -
Habits -
Geographic origin -
Reference Cornille et al. (2008), France:Angers
Remarks OPA1 mutation don't segregates with phenotype; Phenotype inheritance: familial; Other relevant clinical information: Partial, spontaneous visual recovery
# Reported 1
Submitter Marc Ferre (Curator, according to published data)

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID OPA1_00235
DNA change (cDNA) c.740G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Location Exon
Exon 7
Affected domain Non-specific domain
RNA change -
Protein p.(Arg247His)
Reference Cornille et al. (2008)
Technique SEQ
Template DNA
Tissue Blood
Re-site -
DNA change/variant 1 -
Exon/variant 1 5b
Protein/isoform 1 -
DNA published -
Variant remarks eOPA1 identifier (obsolete):OA_00244; Nucleotide change: G to A at 740 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation in alternate spliced exon
Frequency -

1 entry in OPA1

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
DNA change (cDNA) Descending
Ascending
Type Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
Affected domain Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Reference Descending
Ascending
Technique Descending
Ascending
Template Descending
Ascending
Tissue Descending
Ascending
Re-site Descending
Ascending
DNA change/variant 1 Descending
Ascending
Exon/variant 1 Descending
Ascending
Protein/isoform 1 Descending
Ascending
DNA published Descending
Ascending
Variant remarks Descending
Ascending
Frequency Descending
Ascending
+/+? Unknown OPA1_00235 c.740G>A Substitution Exon 7 Non-specific domain - p.(Arg247His) Cornille et al. (2008) SEQ DNA Blood - - 5b - - eOPA1 identifier (obsolete):OA_00244; Nucleotide change: G to A at 740 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation in alternate spliced exon -