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 (#0000483)
Gender Female
Disease -
Age of onset -
Age at last examination -
Duration of disease -
Affected relatives Yes
Additional features -
Visual acuity OD: Excellent vision (Log MAR < 0.1), OS: Excellent vision (Log MAR < 0.1)
Evolution of vision loss Unknown
Optic disc OD: Normal, OS: Normal
Cupping -
Color vision OD: Normal, OS: Normal
Visual field -
OCT OD: Mean RNFL: Not known, OD: Mean GCL: Not known, OS: Mean RNFL: Not known, OS: Mean GCL: Not known
Visual handicap -
Hearing loss No
Pure tone audiometry Normal hearing (loss of 0-20dB)
Auditory brainstem responses Normal
Otoacoustic emission Present
Functional disability -
Clinical score -
Electroneuromyography -
Histology Muscle biopsy: Not performed, Nerve biopsy: Not performed
Brain imaging MRI: Not performed
Habits -
Geographic origin USA
Reference Schaaf et al. (2011), France:Angers
Remarks -
# Reported 1
Submitter Angelique Caignard

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
DB-ID OPA1_00174
DNA change (cDNA) c.1311A>G   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Location Exon
Exon 14
Affected domain GTPase (exons 10-17)
RNA change -
Protein p.(Ile437Met)
Reference Ferre et al. (2009)
Technique SEQ
Template DNA
Tissue Blood
Re-site -
DNA change/variant 1 NM_015560.2:c.1146A>G
Exon/variant 1 12
Protein/isoform 1 NP_056375.2:p.(Ile382Met)
DNA published -
Variant remarks eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)
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
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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_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) -