OMIM: 125370Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | ATN1 |
|---|
| Dna Change: | c.1450_1452CAG(8_25) ((CAG)n EXPANSION) |
|---|
| Protein Change: | p.Gln502_His503insGlnGlnGlnGlnGlnGln |
|---|
| Mutation Type: | Sequence repeat |
|---|
| Mutation Effect: | |
|---|
| Location: | exon 5 |
|---|
| Transcript: | NM_001007026.1 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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