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

BMC Bioinformatics

Table 3 Table of non-polyglutammine, non-polyalanine 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

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.