Table 2 Proteins identified as over-represented in aggregate samples in myotilinopathy

Desmin

52.09

14.36

3.6

6.75 × 10⁻⁶

Filamin C

31.82

17.86

1.8

6.69x10⁻⁶

Myotilin

24.05

4.51

5.3

2.91 × 10⁻⁸

Xin actin-binding repeat-containing protein 2 (XIRP2)

21.75

0.10

214.8

7.66 × 10⁻⁶

Nebulin-related-anchoring protein (N-RAP)

18.19

0.57

31.7

7.31 × 10⁻⁷

Plectin

14.27

6.75

2.1

0.0003

Collagen alpha-3(VI) chain

11.22

1.99

5.6

1.88 × 10⁻⁵

Obscurin

8.49

4.68

1.8

0.0020

Xin actin-binding repeat-containing protein 1 (Xin)

7.17

0.67

10.7

1.88 × 10⁻⁷

Alpha-crystallin B chain (αB-crystallin)

6.50

1.08

6.0

1.03 × 10⁻⁵

Nestin

5.14

0.11

47.3

7.62 × 10⁻⁶

Myosin-3

4.16

1.13

3.7

0.0043

Histone H4

3.87

1.23

3.1

3.08 × 10⁻⁵

Collagen alpha-1(VI) chain

3.73

0.80

4.7

0.0005

Myosin-binding protein H (MYBPH)

3.19

0.51

6.3

0.0029

Fibrillin-1

2.90

0.58

5.0

0.0230

Dysferlin

2.71

0.33

8.2

2.91 × 10⁻⁶

Prelamin-A/C

2.67

0.56

4.8

2.44 × 10⁻⁵

PDZ and LIM domain protein 3

2.56

1.26

2.0

0.0029

Collagen alpha-2(VI) chain

2.41

0.52

4.6

0.0004

Heat shock cognate 71 kDa protein (HSPA8/Hsc70)

2.40

0.99

2.4

0.0001

Collagen alpha-1(I) chain

2.05

0.53

3.8

0.0475

Sequestosome-1 (p62)

1.75

0.03

52.0

0.0001

Collagen alpha-2(I) chain

1.62

0.58

2.8

0.0080

Tubulin alpha-4A chain

1.51

0.79

1.9

0.0074

Heat shock protein beta-1 (HSPB1/Hsp27)

1.40

0.44

3.2

0.0173

Basement membrane-specific heparan sulfate proteoglycan core protein (Perlecan)

1.25

0.26

4.8

0.0077

Laminin subunit gamma-1

1.25

0.06

20.6

0.0001

NADH-cytochrome b5 reductase 1

1.13

0.69

1.6

0.0385

Laminin subunit beta-2

1.07

0.23

4.6

0.0110

Kelch-like protein 40

1.07

0.49

2.2

0.0207

Dystrophin

1.04

0.12

8.6

0.0004

Collagen alpha-2(IV) chain

0.97

0.31

3.1

0.0016

Heat shock 70 kDa protein 1A/1B

0.90

0.42

2.2

0.0030

ATP synthase F(0) complex subunit B1, mitochondrial

0.90

0.48

1.9

0.0121

Tubulin beta chain

0.79

0.29

2.8

0.0016

Decorin

0.79

0.08

9.7

0.0230

BAG family molecular chaperone regulator 3 (BAG3)

0.71

0.14

5.2

0.0007

Collagen alpha-1(III) chain

0.69

0.19

3.6

0.0348

Microsomal glutathione S-transferase 3 (MGST3)

0.68

0.27

2.5

0.0365

Synaptophysin-like protein 2

0.57

0.19

2.9

0.0087

Myosin-14

0.52

n.d.

n.a.

0.0203

Muscle-related coiled-coil protein (MURC)

0.49

n.d.

n.a.

0.0491

NADH-cytochrome b5 reductase 3

0.45

0.07

6.8

0.0010

Myopalladin

0.44

n.d.

n.a.

0.0027

Microtubule-associated protein 4 (MAP4)

0.43

0.02

25.9

0.0110

Sarcolemmal membrane-associated protein

0.40

0.10

4.0

0.0131

Protein kinase C and casein kinase substrate in neurons protein 3 (PACSIN 3)

0.40

0.02

20.2

0.0041

Next to BRCA1 gene 1 protein (NBR1)

0.37

n.d.

n.a.

0.0057

Supervillin

0.31

0.09

3.3

0.0315

14-3-3 protein gamma

0.30

0.08

3.8

0.0134

Tropomodulin-1

0.29

0.02

15.0

0.0019

Syncoilin

0.28

n.d.

n.a.

0.0021

Voltage-dependent calcium channel subunit alpha-2/delta-1

0.28

0.02

16.7

0.0084

Histone H1.0

0.26

n.d.

n.a.

0.0016

Signal recognition particle subunit SRP68

0.26

0.04

6.0

0.0258

Unconventional myosin-XVIIIa

0.26

n.d.

n.a.

0.0043

Tubulin beta-4B chain

0.24

0.04

5.8

0.0013

Xaa-Pro aminopeptidase 1

0.23

n.d.

n.a.

0.0018

Myeloid leukemia factor 2

0.22

n.d.

n.a.

0.0021

Myosin-10

0.17

n.d.

n.a.

0.0455

Elastin

0.16

n.d.

n.a.

0.0465

Protein NipSnap homolog 2

0.16

n.d.

n.a.

0.0254

60S ribosomal protein L12

0.16

0.03

6.3

0.0355

Heat shock protein beta-8 (HSPB8/Hsp22)

0.15

n.d.

n.a.

0.0053

Epoxide hydrolase 1

0.15

n.d.

n.a.

0.0461

Y-box-binding protein 3 (YBX3)

0.12

n.d.

n.a.

0.0141

60S ribosomal protein L22

0.12

n.d.

n.a.

0.0490

60S ribosomal protein L7

0.10

n.d.

n.a.

0.0330

Collagen alpha-3(IV) chain

0.09

n.d.

n.a.

0.0337

CD59 glycoprotein

0.09

n.d.

n.a.

0.0333

SET-binding protein

0.09

n.d.

n.a.

0.0333

78 kDa glucose-regulated protein (GRP78/BiP)

0.29

0.05

5.7

0.0526^*

Cysteine and glycine-rich protein 3 (CSRP3)

0.21

0.08

2.8

0.0504^*

Delta-sarcoglycan

0.07

n.d.

n.a.

0.0781^*

Thrombospondin-4

0.07

n.d.

n.a.

0.0727^*