Gene Symbol: ATN1
OMIM: 607462Chromosome location: 12p13.31
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Dentatorubro-pallidoluysian atrophy |
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| Dna Change: | c.1450_1452CAG(8_25) ((CAG)n EXPANSION) |
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| Protein Change: | p.Gln502_His503insGlnGlnGlnGlnGlnGln |
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| Mutation Type: | Sequence repeat |
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| Mutation Effect: | |
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| Location: | exon 5 |
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| Transcript: | NM_001007026.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 10 patients | 600 years ago | Veneziano L et al., 2014Veneziano L, Mantuano E, Catalli C, Gellera C, Durr A, Romano S, Spadaro M, Frontali M, Novelletto A, . A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.. J. Hum. Genet.. 2014; 59(3):153-7 |
References
Veneziano L, Mantuano E, Catalli C, Gellera C, Durr A, Romano S, Spadaro M, Frontali M, Novelletto A, A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutation.J. Hum. Genet.. 2014; 59(3):153-7