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Table 3 Summary of N-glycan profiles of JBTS10 patient fibroblasts

From: Abnormal glycosylation in Joubert syndrome type 10

Centroid mass (m/z)

Glycan structure

UDP-3331 (% total glycans)

UDP-3331 +OFD1 (% total glycans)

UW172–4 (% total glycans)

Adult control (% total glycans)

Ref low (% total glycans)

Ref high (% total glycans)

1171.9

Hex3 HexNAc2

4.09

7.07

1.63

5.00

0.23

12.38

1346.0

Hex3 dHex1 HexNAc2

3.86

5.28

1.06

5.09

0.00

6.11

1417.1#

Hex3 HexNAc3

0.00

0.79

0.00

0.78

0.00

0.78

1580.2

Hex5 HexNAc2

8.19

11.68

4.55

8.46

1.83

14.29

1621.3

Hex4 HexNAc3

0.56

0.76

0.00

0.98

0.00

0.98

1662.3

Hex3 HexNAc4

0.00

0.00

0.00

0.00

0.00

0.29

1784.4

Hex6 HexNAc2

19.88

17.97

15.17

18.31

6.54

20.74

1825.4

Hex5 HexNAc3

0.57

0.62

0.00

0.90

0.00

0.90

1866.5

Hex4 HexNAc4

0.74

0.81

0.00

0.66

0.00

0.70

1982.5

Hex4 NeuAc1 HexNAc3

0.00

0.00

0.00

0.00

0.00

0.30

1988.5

Hex7 HexNAc2

9.81

9.62

12.04

9.67

4.87

14.86

2029.6

Hex6 HexNAc3

0.54

0.52

0.00

0.93

0.00

2.19

2070.6

Hex5 HexNAc4

4.39

4.03

2.03

3.20

0.00

3.88

2156.7#

Hex4 dHex1 HexNAc3 NeuAc1

0.00

0.34

0.00

0.52

0.00

0.75

2192.7

Hex8 HexNAc2

16.18

13.96

27.66

16.04

0.00

32.90

2227.7

Hex4 HexNAc4 NeuAc1

0.00

0.00

0.00

0.00

0.00

0.20

2396.9

Hex9 HexNAc2

9.28

7.49

18.11

9.09

0.24

32.34

2431.9^

Hex5 HexNAc4 NeuAc1

2.18

1.47

2.92

1.83

0.00

1.83

2606.0^

Hex5 dHex1 HexNAc4 NeuAc1

6.85

4.19

2.23

4.70

0.00

4.70

2793.3

Hex5 HexNAc4 NeuAc2

0.86

0.45

1.53

1.00

1.21

6.80

2967.3

Hex5 dHex1 HexNAc4 NeuAc2

2.69

1.45

4.74

2.02

3.38

10.79

3241.6

Hex6 HexNAc5 NeuAc2

0.00

0.00

0.00

0.17

0.00

1.96

3415.6

Hex6 dHex1 HexNAc5 NeuAc2

0.45

0.22

0.84

0.39

0.43

5.84

3602.9

Hex6 HexNAc5 NeuAc3

0.33

0.00

0.00

0.28

0.64

23.23

3776.6#

Hex6 dHex1 HexNAc5 NeuAc3

0.21

0.00

0.79

0.11

0.00

5.46

  1. The percentages of total glycans of the indicated N-glycan species for UDP-3331, UDP-3331 + OFD1 rescue, UW172-4, and adult WT control fibroblasts samples are shown along with reference (Ref) low and high values derived from control samples. Species with values in the low-normal range in the JBTS10 sample(s) are flagged with a pound sign (#). Species that are elevated above the normal range in JBTS10 sample(s) are flagged with a caret (^). Species below the normal range in JBTS10 sample(s) are flagged with a dagger (†)
  2. #Low normal in JBST10
  3. ^Above normal in JBST10
  4. Below normal in JBST10