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 (#0000507)
Gender Male
Disease ADOA
Age of onset 1-5 years
Age at last examination 13 years
Duration of disease < 11 years
Affected relatives No
Additional features -
Visual acuity OD: Severely impaired vision (Log MAR: 0.9-0.3), OS: Severely impaired vision (Log MAR: 0.9-0.3)
Evolution of vision loss Unknown
Optic disc OD: Temporal pallor, OS: Temporal pallor
Cupping -
Color vision -
Visual field OD: Type: Goldmann visual field, OD: Result: Centrocecal scotoma, OS: Type: Goldman visual field, OS: Result: Centrocecal scotoma, OS: Result: Paracentral scotoma
OCT -
Visual handicap -
Hearing loss -
Pure tone audiometry -
Auditory brainstem responses -
Otoacoustic emission -
Functional disability -
Clinical score -
Electroneuromyography -
Histology -
Brain imaging MRI: Normal
Habits -
Geographic origin Saudi Arabia
Reference Galvez-Ruiz et al. (2013), France:Angers
Remarks -
# Reported 1
Submitter Angelique Caignard

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID OPA1_00308
DNA change (cDNA) c.949-2A>T   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Location Intron
Exon 9
Affected domain -
RNA change -
Protein p.?
Reference Galvez-Ruiz et al. (2013)
Technique SEQ
Template DNA
Tissue Blood
Re-site -
DNA change/variant 1 NM_015560.2:c.784-2A>T
Exon/variant 1 7
Protein/isoform 1 NP_056375.2:p.?
DNA published -
Variant remarks -
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_00308 c.949-2A>T Substitution Intron 9 - - p.? Galvez-Ruiz et al. (2013) SEQ DNA Blood - NM_015560.2:c.784-2A>T 7 NP_056375.2:p.? - - -