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Table 3 Repeat gap polymorphic variants

From: Mutation patterns of amino acid tandem repeats in the human proteome

Ensembl ID

Locus link ID

AA

Position*

Size*

Size variant

Len. protein*

Number of ESTs†

Codon max run‡

Codon hom.§

Max run size‡

Description

ENSP00000282388

ZFP36L2

Q

394

7

9

494

195

CAG

1

7

Butyrate response factor 2 (TIS11D protein)

ENSP00000324790

TDE2L

Q

363

5

6

455

56

CAG

1

5

Tumor differentially expressed 2-like

ENSP00000317661

CACNA1A

Q

2,311

13

11

2,505

10

CAG

1

13

Voltage-dependent P/Q-type calcium channel alpha-1A subunit (CACNA1A)

ENSP00000280665

DCP1B

Q

251

10

11

617

7

CAG

0.90

9

mRNA decapping enzyme 1B

ENSP00000348018

ZNF384

Q

439

16

15

516

23

CAG

0.88

14

Zinc finger protein 384 (nuclear matrix transcription factor 4)

ENSP00000264883

 

Q

92

5

6

507

33

CAG

0.80

4

Nucleoporin p54 (54 kDa nucleoporin)

ENSP00000229279

ATN1

Q

482

19

16

1,189

7

CAG

0.79

15

Atrophin-1 (dentatorubral-pallidoluysian atrophy protein; DRPLA)

ENSP00000265773

SMARCA2

Q

215

23

22

1,590

8

CAG

0.57

13

Possible global transcription activator SNF2L2 (SNF2-alpha)

ENSP00000354597

KIAA0476

Q

815

16

13

1,417

8

CAG

0.56

9

Unknown function

ENSP00000272804

KIAA1946

Q

42

14

15,16

428

4

CAG

0.43

6

KIAA1946

ENSP00000313603

ABCF1

Q

63

10

9,11

845

20

CAG

0.40

4

ATP-binding cassette. sub-family F, member 1

ENSP00000252891

NUMBL

Q

426

20

18

609

9

CAG

0.35

7

Numb-like protein (Numb-R)

ENSP00000304689

THAP11

Q

103

29

28

314

12

CAG

0.34

10

THAP domain protein 11 (HRIHFB2206)

ENSP00000345671

NCOA3

Q

1,243

29

28

1,420

8

CAG

0.31

9

Nuclear receptor coactivator 3 isoform b

ENSP00000301187

TMC4

E

56

5

4

706

12

GAG

1

5

Transmembrane channel-like 4

ENSP00000315064

MAGEF1

E

152

6

4,7

307

49

GAG

1

6

Melanoma-associated antigen F1 (MAGE-F1 antigen)

ENSP00000340702

 

E

630

10

9,11

686

6

GAG

1

10

106 kDa O-GlcNAc transferase-interacting protein

ENSP00000262680

NRD1

E

149

5

4

1,219

33

GAA

0.80

4

Nardilysin precursor (EC 342461) (N-arginine dibasic convertase)

ENSP00000252455

PRKCSH

E

312

13

12

528

15

GAG

0.77

10

Glucosidase II beta subunit precursor (PKCSH)

ENSP00000253237

GRWD1

E

123

6

5

446

79

GAA

0.50

3

Glutamate-rich WD-repeat protein 1

ENSP00000262710

ACIN1

E

269

12

11

1,341

5

GAG

0.50

6

Apoptotic chromatin condensation inducer in the nucleus (Acinus)

ENSP00000346324

 

E

60

7

8

109

249

GAG

0.43

3

Predicted: similar to prothymosin alpha

ENSP00000263274

LIG1

E

152

6

5

919

19

GAG/GAA

0.33

2

DNA ligase I (polydeoxyribonucleotide synthase [ATP])

ENSP00000304498

PODXL2

E

161

11

9

529

39

GAG

0.27

3

Endoglycan

ENSP00000345444

APLP2

E

220

7

5

707

84

GAG/GAA

0.14

1

Amyloid-like protein 2 precursor (CDEI-box binding protein)

ENSP00000350479

RPL14

A

149

10

11,12

215

213

GCT

1

10

60S ribosomal protein L14 (CAG-ISL 7)

ENSP00000255608

BTBD2

A

40

14

15,16

525

9

GCC

0.93

13

BTB/POZ domain containing protein 2

ENSP00000305783

RBM23

A

368

9

10

423

53

GCT

0.56

5

RNA-binding region containing protein 4 (pplicing factor SF2)

ENSP00000346678

 

A

130

6

5

232

50

GCA

0.33

2

Similar to splicing factor. arginine/serine-rich 4 isoform c

ENSP00000330188

 

A

266

5

6

434

50

GCA/GCT

0.20

1

Similar to splicing factor. arginine/serine-rich 4 isoform c

ENSP00000324573

FLII

A

410

6

5

1,269

25

GCA/GCT

0.17

1

Flightless-I protein homolog

ENSP00000255631

 

G

24

6

9

359

96

GGC

0.83

5

hsp70-interacting protein

ENSP00000246533

CAPNS1

G

36

20

21

268

100

GGC

0.50

10

Calpain small subunit 1 (CSS1)

ENSP00000218072

SRPX

L

16

7

6

464

21

CTG

1

7

Sushi repeat-containing protein SRPX precursor

ENSP00000315602

CHRNA3

L

16

7

6

505

5

CTG

1

7

Neuronal acetylcholine receptor protein, alpha-3 chain precursor

ENSP00000344134

MOG

L

16

6

5

206

13

CTC

1

6

Myelin-oligodendrocyte glycoprotein precursor

ENSP00000240617

 

L

17

8

7

553

22

CTG

0.88

7

Unknown function

ENSP00000304072

DDX54

K

89

5

6

882

97

AAG

1

5

DEAD-box protein 54

ENSP00000285814

MKI67IP

K

211

5

6

293

79

AAG

0.60

3

MKI67 (FHA domain) interacting nucleolar phosphoprotein

ENSP00000276212

GPC3

P

25

6

5

580

54

CCG

0.83

5

Glypican-3 precursor (Intestinal protein OCI-5)

ENSP00000312296

CKAP4

P

42

5

4

602

11

CCG

0.80

4

Cytoskeleton-associated protein 4

ENSP00000286910

PCGF6

P

23

5

7

350

7

CCT

0.40

2

Polycomb group ring finger 6 isoform a

ENSP00000301653

KRT16

S

72

5

6

473

248

AGC

1

5

Keratin, type I cytoskeletal 16 (cytokeratin 16)

ENSP00000307804

MLLT3

S

382

9

7

568

5

AGC/TCC

0.11

1

AF-9 protein

  1. *Refers to the Ensembl protein. Len., length. Size, size of repeat. †Number of ESTs covering the repeat. ‡Max run, longest pure codon run within the repeat-encoding sequence. §Codon hom. (homogeneity), size of Max run divided by size of the repeat. AA, amino acid. Size variant can include several size variants (for example, 15,16)
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Genome Biology

ISSN: 1474-760X

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