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 (#0000580)
Gender Female
Disease ADOA
Age of onset > 50 years
Age at last examination 73 years
Duration of disease < 11 years
Affected relatives No
Additional features -
Visual acuity OS: Moderately impaired vision (Log MAR: 0.2-0.1)
Evolution of vision loss Unknown
Optic disc -
Cupping -
Color vision -
Visual field -
OCT -
Visual handicap D: Able to drive, F: Able to eat, cook and buy food without help, SL: No difficulty at all
Hearing loss No
Pure tone audiometry Normal hearing (loss of 0-20dB)
Auditory brainstem responses -
Otoacoustic emission -
Functional disability No technical assistance
Clinical score -
Electroneuromyography -
Histology Muscle biopsy: Not performed
Brain imaging MRI: Optic atrophy
Habits Tobacco: None
Geographic origin -
Reference USA, mixed European ancestry, United States:Sacramento
Remarks OPA1 mutation discover on WES due to complaints of fatigue and tingling
# Reported 1
Submitter Bjorn Oskarsson

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID OPA1_00356
DNA change (cDNA) c.113_130del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Location Exon
Exon 2
Affected domain Basic (exons 1-3)
RNA change -
Protein p.(Arg38_Ser43del)
Reference -
Technique SEQ
Template DNA
Tissue -
Re-site -
DNA change/variant 1 NM_015560.1:c.113_130del
Exon/variant 1 2
Protein/isoform 1 NP_056375.1:p.(Arg38_Ser43del)
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_00356 c.113_130del Deletion Exon 2 Basic (exons 1-3) - p.(Arg38_Ser43del) - SEQ DNA - - NM_015560.1:c.113_130del 2 NP_056375.1:p.(Arg38_Ser43del) - - -