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Variants are described according to OPA1 transcript variant 8 (exons 4, 5/4b and 7/5b; RefSeq: NM_130837.2). In addition, in specific columns "/variant 1" and "/isoform 1", some mutations are described according to variant 1 (exon 4, not 5/4b and 7/5b; RefSeq: NM_015560.2) for historical reasons.
Legend: [ OPA1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. OPA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. DNA change (cDNA): Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Location: Variant location at DNA level. Exon: Exon numbering. Affected domain: Affected domain of the protein. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein. Tissue: Tissue type the variant was detected in. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. DNA change/variant 1: Variation at DNA level described according to OPA1 transcript variant 1 (exon 4, not 5/4b and 7/5b; RefSeq: NM_015560.2; previous naming convention). Exon/variant 1: Exon numbering described according to OPA1 transcript variant 1 (exon 4/not 4b and 5b; RefSeq: NM_015560.2; previous numbering convention). Protein/isoform 1: Variation at protein level described according to OPA1 isoform 1 (exon 4, not 5/4b and 7/5b; RefSeq: NP_056375.2); previous naming convention). DNA published: What the variant was reported as. Variant remarks: Variant remarks Frequency: Frequency if variant is non pathogenic. Gender: Patient gender Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Age of onset: Age of the patient when the first symptoms occurred. Age at last examination: Age of the patient at the last examination. Duration of disease: Duration of the disease between first symptoms and the age of the last clinical examination. Affected relatives: Affected relatives genetically confirmed. Additional features: Additional features to the classical description of the disease. Visual acuity: Best corrected visual acuity. Evolution of vision loss: Evolution of vision loss since diagnosis (2 or more decimal lines). Optic disc: Optic disc appearance. Cupping: Cup to disc ratio on fundoscopy. Color vision: Clinical evaluation of color vision. Visual field: Type, value of MD and results of visual field. OCT: Mean retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness by OCT. Visual handicap: Eventual handicap of the patient, at the last clinical examination, ONLY due to visual loss. D: driving; F: feeding; SL: social life; W: working. Hearing loss: Presence of hearing loss due to a genetic cause, i.e. excluding other possible causes (infection, medication, trauma...), and age of onset. Pure tone audiometry: Pure tone audiometry Auditory brainstem responses: Auditory brainstem responses Otoacoustic emission: Otoacoustic emission Functional disability: Functional disability. LL: lower limbs, UL: upper limbs. Clinical score: Clinical score. Electroneuromyography: Indicate the type of neuropathy, and the values of the electrophysiological parameters (MNCV: Motor Nerve Conduction Velocity in m/s; CMAP: Compound Muscle Action Potential in mV; SNAP: Sensory Nerve Action Potential in ÁV). Histology: Histological findings. Brain imaging: Brain imaging. MRI: magnetic resonance imaging; MR-spectroscopy: magnetic resonance spectroscopy. Habits: Habits of the patient. Geographic origin: Geographic origin of patient Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported