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Table 2 Summary of N-glycan profiles of JBTS10 patient plasma

From: Abnormal glycosylation in Joubert syndrome type 10

Centroid mass (m/z)

Predicted glycan species

UDP-3331 (% total glycans)

NIH-452 (% total glycans)

Ref low (% total glycans)

Ref high (% total glycans)

1580.2

Hex5 HexNAc2

0.69

0.91

0.23

1.88

1662.3

Hex3 HexNAc4

0.03

0.00

0.00

0.22

1784.4

Hex6 HexNAc2

0.51

0.48

0.00

0.87

1866.5

Hex4 HexNAc4

0.19

0.00

0.06

0.53

1982.5

Hex4 NeuAc1 HexNAc3

0.48

0.43

0.08

0.80

1988.5

Hex7 HexNAc2

0.19

0.00

0.00

0.39

2070.6

Hex5 HexNAc4

0.15

0.00

0.30

2156.7#

Hex4 dHex1 HexNAc3 NeuAc1

0.05

0.00

0.06

0.17

2186.7

Hex4 dHex1 NeuGc1 HexNAc3

0.39

0.00

0.89

2192.7

Hex8 HexNAc2

0.32

0.00

0.06

0.61

2227.7^

Hex4 HexNAc4 NeuAc1

1.38

1.54

0.40

1.28

2285.2^

Hex4 dHex1 HexNAc5

0.17

0.00

0.16

2431.9^

Hex5 HexNAc4 NeuAc1

5.87

9.88

2.38

6.74

2606.0

Hex5 dHex1 HexNAc4 NeuAc1

0.54

1.87

0.79

2.87

2793.3

Hex5 HexNAc4 NeuAc2

20.29

40.58

28.38

58.23

2966.5

Hex5 dHex1 HexNAc4 NeuAc2

1.49

2.89

2.49

3.36

3241.6

Hex6 HexNAc5 NeuAc2

1.13

1.52

0.08

1.70

3415.6

Hex6 dHex1 HexNAc5 NeuAc2

0.25

0.00

0.00

0.87

3602.9

Hex6 HexNAc5 NeuAc3

3.31

6.72

1.64

6.10

3776.6#

Hex6 dHex1 HexNAc5 NeuAc3

0.94

0.38

0.00

7.27

  1. The percentages of total glycans for the indicated N-glycan species in the plasma of UDP-3331 and NIH-452 are shown along with reference (Ref) range derived from controls. Species with values in the low-normal range in the JBTS10 samples are flagged with a pound sign (#). Species below the normal range in JBTS10 sample(s) are flagged with a dagger (†). Species that are elevated above the normal range are flagged with a caret (^)
  2. #Low normal in JBST10
  3. ^Above normal in JBST10
  4. Below normal in JBST10