Gene Symbol: OPA1
OMIM: 605290Chromosome location: 3q29
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Optic atrophy 1 |
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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