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 (#0000470)
Gender Male
Disease ADOA+
Age of onset 1-5 years
Age at last examination 46 years
Duration of disease 41-50 years
Affected relatives -
Additional features Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia
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 LL: wheelchair bound (disease duration > 30 years)
Clinical score -
Electroneuromyography -
Histology -
Brain imaging MRI: Cerebellar atrophy
Habits -
Geographic origin German / Italian
Reference Bonifert et al. (2014), Germany:Tübingen
Remarks -
# Reported 1
Submitter Tobias Bonifert

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID OPA1_00285
DNA change (cDNA) c.610+364G>A   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Location Intron
Exon 5
Affected domain Non-specific domain
RNA change -
Protein p.?
Reference Bonifert et al. (2014)
Technique CMC, PCR, SEQ
Template DNA
Tissue blood, fibroblasts
Re-site -
DNA change/variant 1 -
Exon/variant 1 -
Protein/isoform 1 -
DNA published -
Variant remarks -
Frequency -

2 entries 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
+/+? Maternal (confirmed) OPA1_00285 c.610+364G>A Substitution Intron 5 Non-specific domain - p.? Bonifert et al. (2014) CMC, PCR, SEQ DNA blood, fibroblasts - - - - - - -
?/? Paternal (confirmed) OPA1_00174 c.1311A>G Substitution Exon 14 GTPase (exons 10-17) - p.(Ile437Met) Ferre et al. (2009) SEQ DNA Blood - NM_015560.2:c.1146A>G 12 NP_056375.2:p.(Ile382Met) - eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1) -