OMIM: 165500Inheritance: Autosomal dominant
Classification: Diseases of the eye and adnexa
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | OPA1 |
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| Dna Change: | c.869G>A |
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| Protein Change: | p.Arg290Gln |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_015560.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | South-eastern Sicily | 28 patients/7 families | NA | Gallus GN et al., 2012Gallus GN, Cardaioli E, Rufa A, Collura M, Da Pozzo P, Pretegiani E, Tumino M, Pavone L, Federico A, . High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.. Clin. Genet.. 2012; 82(3):277-82 |
References
Gallus GN, Cardaioli E, Rufa A, Collura M, Da Pozzo P, Pretegiani E, Tumino M, Pavone L, Federico A, High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.Clin. Genet.. 2012; 82(3):277-82