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 (#0000458)
Gender -
Disease ADOA
Age of onset -
Age at last examination -
Duration of disease -
Affected relatives -
Additional features -
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 -
Clinical score -
Electroneuromyography -
Histology -
Brain imaging -
Habits -
Geographic origin United Kingdom
Reference Mavrogiannis LA, Prescott K, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds
Remarks OPA1 mutation segregates with phenotype; Phenotype inheritance: familial
# Reported 1
Submitter Lampros Mavrogiannis

Variant data
Allele Unknown
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID OPA1_00273
DNA change (cDNA) c.33-?_2983+?dup   (View in UCSC Genome Browser, Ensembl)
Type Duplication
Location Exon
Exon 2-29
Affected domain Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)
RNA change -
Protein p.?
Reference Mavrogiannis LA, Prescott K, Charlton RS (unpublished)
Technique MLPA
Template DNA
Tissue Blood
Re-site -
DNA change/variant 1 NM_015560:c.33-?_2818+?dup
Exon/variant 1 2-27
Protein/isoform 1 p.?
DNA published -
Variant remarks eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP
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_00273 c.33-?_2983+?dup Duplication Exon 2-29 Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - p.? Mavrogiannis LA, Prescott K, Charlton RS (unpublished) MLPA DNA Blood - NM_015560:c.33-?_2818+?dup 2-27 p.? - eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP -