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 (#0000480)
Gender Male
Disease ADOA+
Age of onset 1-5 years
Age at last examination 8 years
Duration of disease < 11 years
Affected relatives Yes
Additional features Ataxia, Dysphagia, Intestinal obstruction, Peripheral neuropathy
Visual acuity OD: Profound visual loss (Log MAR > 0.9), OS: Profound visual loss (Log MAR > 0.9)
Evolution of vision loss Unknown
Optic disc OD: Diffuse pallor, OS: Diffuse pallor
Cupping -
Color vision -
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 -
Auditory brainstem responses Delayed
Otoacoustic emission Present
Functional disability -
Clinical score -
Electroneuromyography -
Histology Muscle biopsy: Ragged-red-fibers, Muscle biopsy: Cox-fibers, Muscle biopsy: Lipids accumulation, Nerve biopsy: Not performed
Brain imaging MRI: White matter abnormal signal
Habits Tobacco: None, Alcohol: None
Geographic origin USA
Reference Schaaf et al. (2011), France:Angers
Remarks -
# Reported 1
Submitter Angelique Caignard

Variant data
Allele Maternal (confirmed)
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 -

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_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) -
+?/+ Paternal (confirmed) OPA1_00016 c.2873_2876del Deletion Exon 29 Putative GED (exons 29-30) - p.(Val958Glyfs*3) Delettre et al. (2000) SEQ DNA Blood - NM_015560.1:c.2708_2711del 27 NP_056375.1:p.(Val903Glyfs*3) c.2708delTTAG eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature -