Skip to main content

Advertisement

Table 3 Table of non-polyglutammine, non-polyalanine diseases.

From: Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases

Disease code Disease name Gene Motif Location Normal repeats Pathogenic repeats
FRAXA Fragile X syndrome FMR1 CGG 5'-UTR 6 - 53 230+
FXTAS Fragile Xassociated tremor/ataxia syndrome FMR1 CGG 5'-UTR 6 - 53 55-200
FRAXE Fragile XE mental retardation AFF2 GCC 5'-UTR 6 - 35 200+
FRDA Friedreich's ataxia FXN GAA Intr. 7 - 34 100+
DM1 Myotonic dystrophy type DMPK CTG 3'-UTR 5 - 37 50+
DM2 Myotonic dystrophy type 2 ZNF9 CCTG Intr. 27- 75+
SCA10 Spinocerebellar ataxia Type 10 ATXN10 ATTCT Intr. 10-29 280+
SCA12 Spinocerebellar ataxia Type 12 PPP2R2B CAG 5'-UTR 7 - 28 66 - 78
EPM1 Progressive myoclonus epilipsy CSTB (C)4G(C)4GCG Prom. 2-3 60+
HDL-2 Huntington diesease-like JPH3 CAG/CTG 3'-UTR 66- 66+
SCA8 Spinocerebellar ataxia Type 8 ATXN8OS CTG 3'-UTR 16 - 37 110 - 250
  1. Table of non-polyglutammine and non-polyalanine diseases. The table reports: disease code and full name, associated gene, repeating unit genic region, ranges of healthy and pathogenic repeat numbers.