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.

Pellegrini et al. BMC Bioinformatics 2012 13(Suppl 4):S3   doi:10.1186/1471-2105-13-S4-S3

Open Data