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Table 1 Q-tract length variation in genes containing polyglutamine-encoding CAG-type trinucleotide repeats, sorted by Q-tract

From: CAG-encoded polyglutamine length polymorphism in the human genome

Chromosome Band

Gene Namea

Repeat Sequence from Reference Genome (sense strand)b

Expected Q-tract Length from Reference Genomec

Nd

Observed Q-tract Length Min-Max

Q-tract Mean

Q-tract Variance

17p13.2

MINK1*

G4N1G5

Q4LQ5 (SwP)

162

5 – 5

5.0

0

9q34.11

CIZ1

G6

Q6

154

6 – 6

6.0

0

7q36.2

PAXIP1L*

G7

Q7

168

7 – 7

7.0

0

11q24.3

PRDM10

G8

Q8

172

8 – 8

8.0

0

4q31.1

MAML3a*

G9

Q9

156

8 – 8

8.0

0

6p21.1

TFEB

G6 A1G3

Q10

162

10 – 10

10.0

0

19p13.11

CHERP

G6 A1G5

Q12

192

12 – 12

12.0

0

12q21.2

PHLDA1

G5A1G6 A2G1

Q15

212

14 – 14

14.0

0

16p13.3

CREBBP

G4 A1G3A2G2A1G4 A1

Q18

158

18 – 18

18.0

0

4q31.1

MAML3b*

G3A1G3A1G1A1G8

Q18

166

18 – 18

18.0

0

20q11.22

NCOA6*

G4A4G8 A2G1A1G2A2G1

Q25

166

25 – 25

25.0

0

Xq13.1

MED12*

G5A1G2A1G1A1G5A1G1A1G7 N4G6

Q26X4Q6

205

26 – 27

26.0

0

20q13.12

PRKCBP1

G7 A1

Q8

152

8 – 9

8.0

0.01

15q24.1

ARID3B

G8 A2G1

Q11

212

11 – 12

11.0

0.01

22q11.21

PCQAPa

G4A1G3N1G5N3G7A1G3N8G3N5G5N1G8

Q8FQ5X3Q11X16Q5LQ8

152

11 – 12

11.0

0.01

3p24.3

SATB1

G1A1G3A1G1A1G7

Q15

174

15 – 16

15.0

0.01

6q16.2

POU3F2

G3A1G1A1G3A1G2A1G6 A1G1

Q21

148

21 – 22

21.0

0.01

Xq22.3

FRMPD3

G4A3G4A3G3A3G7

Q27 (SwP)

184

26 – 27

27.0

0.01

2q35

TNS

G9

Q9

178

9 – 11

9.0

0.02

19p13.12

BRD4

G5 N1G1N1A1G4A1G1A1

Q5RQEQ8

140

8 – 9

8.0

0.03

12p13.31

PHC1

G5 A2G1A1G2A1G3

Q15

170

13 – 15

15.0

0.05

9q32

C9orf43

G6 A1G1

Q8

168

8 – 9

8.1

0.07

1q21.3

TNRC4

A1G8 A1G4A1

Q15

150

15 – 18

15.0

0.08

17q12

SOCS7

G7 A1

Q8 (SwP)

134

8 – 9

8.1

0.12

1p31.1

ST6GALNAC5

G7 A1G4

Q12

150

12 – 14

12.1

0.13

15q26.1

POLG

G10 A1G2

Q13

164

13 – 15

13.1

0.16

22q13.1

TNRC6B

G8

Q8

166

7 – 8

7.8

0.17

12q13.12

MLL2*

G5N1A1G1A1G1A1N1G7 N1A1G1A1G1A1N1 G2A1G1N1A1G2A1G4N1A2G3A1G1N1A1G2 A1G2N1A1G1A1G1A3G3N1A1G3A1G3

Q5LQ5LQ7LQ5LQ4LQ8LQ7 LQ6LQ10FQ8

184

8 – 11

10.2

0.21

7p14.1

POU6F2

G10

Q10

168

6 – 11

10.0

0.22

Xq28

CXorf6

G1A1G8 A1N92G5A1G4

Q11X92Q10

168

11 – 12

11.6

0.25

12p13.33

DCP1B

G9 A1

Q10

136

10 – 12

10.5

0.26

17q23.2

VEZF1

G12 A6

Q13 (through intron)

176

8 – 15

13.1

0.29

22q11.21

PCQAPb

G3A1G2N9A2G1A1G12

Q6X9Q16

152

12 – 18

16.1

0.34

3p14.1

MAGI1

G5A1G3A1G10

Q20

168

16 – 21

20.3

0.36

4q21.21

BMP2K

G8A1G1A1G4A1G1A1G9

Q27

148

23 – 28

26.9

0.36

16q22.1

NFAT5*

G5 A1G3A1G3A3G1

Q17

168

11 – 19

17.0

0.37

12p13.31

ZNF384

G14 A1G1

Q16

214

11 – 20

15.2

0.47

22q12.1

MN1*

A1G9 A1G6A1G1A1G1A1G6

Q28

180

26 – 30

28.7

0.53

12q24.33

EP400

G6A2G14 A1G4A1G1

Q29

158

28 – 31

28.8

0.53

12q23.2

ASCL1

G12

Q12

148

9 – 15

12.3

0.65

6q25.3

ARID1B

G7 A1G7A1G1A1

Q18

152

16 – 23

17.7

0.69

11q21

MAML2

G1A1G2A1G13 A1G5A1G1A1G1A1G1A1G2N 5A2G1A1G3N5A1G5A2G5A3G1A2G6A2

Q31X5Q7X5Q27 (through intron)

168

27 – 31

28.3

0.75

12q24.12

ATXN2

G13 A1G9

Q23

124

17 – 27

22.2

0.79

9p24.3

SMARCA2

G1A2G3A1G13 A1G2

Q23

130

18 – 24

22.7

0.79

20q13.12

NCOA3

G6A1G9 A1G1A1G1A1G1A1G2A1G2A1

Q29

150

26 – 31

28.4

0.80

17p11.2

RAI1

G13 A1

Q14

184

11 – 17

14.6

0.84

7q31.1

FOXP2*

G4A1G4A2G2A2G3A5G2A2G5 A1G5 A1G1

Q40

100

34 – 40

39.8

0.85

3p14.1

ATXN7

G10

Q10

184

7 – 14

10.4

0.89

19q13.2

NUMBL

G6A1G1A1G7 A1G2A1

Q20

156

18 – 20

18.7

0.93

12q24.31

NCOR2

G3A2G12

Q16 (through intron)

172

13 – 20

16.9

0.95

15q26.3

MEF2A

G11

Q11

174

8 – 16

10.2

1.13

14q24.3

C14orf4

A1G1A1G1A1G6A1G10 A2G1

Q25 (through intron)

150

20 – 31

23.4

1.17

3q13.2

KIAA2018

G11 A1G1A4

Q14 (through intron)

150

11 – 16

12.6

1.44

1q21.3

DENND4B

A1G5A1G9

Q16

156

13 – 17

15.2

2.04

6p22.3

ATXN1

G12T1G1T1G14

Q12HQHQ14

130

11 – 21

14.6

2.23

6q27

TBP

G3A3G8A1G1A1G19 A1G1

Q38

158

30 – 41

36.9

2.26

19p13.3

CACNA1A

G13

Q13

112

7 – 16

12.1

2.42

16p12.1

TNRC6A

G4 A1G3

Q8

166

4 – 8

7.2

2.50

6p21.1

RUNX2

A1G3A1G4A1G6 A1G6

Q23

100

18 – 30

22.5

3.04

16q22.1

THAP11

G3A1G5A1G2A1G5A1G10

Q29

170

18 – 30

28.5

3.12

1q22

KCNN3

G7A1G4N25G14

Q12X25Q14

170

15 – 25

20.3

3.98

4p16.3

HD e

G19 A1G1

Q21

252

9 – 33

17.2

7.18

Xq12

AR

G22 A1N5G6

Q23X5Q6

180

14 – 33

23.7

9.34

12p13.31

ATN1

G1A1G1A1G15

Q19

168

11 – 27

17.6

11.6

14q32.12

ATXN3

G2A1N1G1A1G8

Q3KQ10

168

10 – 27

17.8

29.2

2q37.1

TNRC15

G6

Q6

n.d.

n.d.

n.d.

n.d.

  1. aBoldface text marks a gene known to cause disease by expansion of a polyglutamine-encoding CAG trinucleotide repeat. 'a' and 'b' after MAML3 and PCQAP denote two targets within these genes. Genes marked with an asterisk (*) contain an additional repeat target that was not screened in this study.
  2. bG denotes "CAG", A denotes "CAA" and N denotes a non-glutamine codon, each followed by the number of tandem repeats of that codon. Boldface text marks the longest uninterrupted CAG-tract.
  3. cX indicates a non-glutamine amino acid; SwP indicates peptide sequence obtained from SwissProt record
  4. dN denotes number of alleles screened
  5. eData for N, Observed Q-tract Length Min-Max, Q-tract Mean, Q-tract Variance, taken from Andres et al. (26)