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Table 4 Predicted effects of genetic variants via MutPred2

From: Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis

ID of SNPs

SUB

Score

Effects

Probability

P value

rs1413852868

A137D

0.575

Altered Transmembrane protein

0.31

1.2e-04

rs1436441738

S141 F

0.852

Altered Transmembrane protein

0.31

1.1e-04

rs764288123

F142S

0.811

Altered Transmembrane protein

0.34

4.4e-05

rs1555563010

R151G

0.589

Gain of Strand

0.28

0.01

 

R151G

0.589

Altered Transmembrane protein

0.27

6.3e-04

 

R151G

0.589

Altered Stability

0.11

0.04

rs371533565

D161H

0.872

Altered Transmembrane protein

0.30

1.5e-04

 

D161H

0.872

Loss of N-linked glycosylation at N166

0.07

0.02

rs2150925336

S270 F

0.917

Altered Transmembrane protein

0.27

6.5e-04

rs2150925451

K280 T

0.790

Altered Ordered interface

0.24

0.03

 

K280 T

0.790

Altered Transmembrane protein

0.11

0.03

rs2150925451

K280R

0.594

Altered Transmembrane protein

0.11

0.04

rs746469285

P283L

0.819

Gain of Helix

0.33

1.7e-03

 

P283L

0.819

Loss of Strand

0.29

3.6e-03

 

P283L

0.819

Altered Transmembrane protein

0.14

0.02

rs1238793405

Q284H

0.700

Altered Transmembrane protein

0.13

0.02

rs759363199

S293G

0.830

Gain of Strand

0.27

0.02

 

S293G

0.830

Altered Ordered interface

0.25

0.02

 

S293G

0.830

Altered Transmembrane protein

0.22

2.8e-03

rs755702977

G296S

0.927

Altered Ordered interface

0.30

0.02

 

G296S

0.927

Altered Transmembrane protein

0.25

1.5e-03

rs1332086669

S298G

0.895

Altered Transmembrane protein

0.24

1.9e-03

rs1263951539

D305G

0.945

Loss of Helix

0.29

0.01

 

D305G

0.945

Altered Transmembrane protein

0.26

1.0e-03

 

D305G

0.945

Altered Metal binding

0.23

0.01

rs746307931

G308R

0.932

Altered Metal binding

0.20

0.02

 

G308R

0.932

Altered Transmembrane protein

0.13

0.02

rs908965524

G308 V

0.939

Altered Metal binding

0.20

0.02

 

G308 V

0.939

Altered Transmembrane protein

0.13

0.02

rs373903147

G309 V

0.892

Altered Metal binding

0.20

0.02

 

G309 V

0.892

Altered Transmembrane protein

0.13

0.02

rs769659540

H353D

0.823

Altered Metal binding

0.36

8.3e-03

 

H353D

0.823

Altered Ordered interface

0.28

0.03

 

H353D

0.823

Loss of Strand

0.28

0.01

 

H353D

0.823

Gain of Allosteric site at Y357

0.20

0.04

rs1177103234

Y357H

0.864

Altered Ordered interface

0.35

5.4e-03

 

Y357H

0.864

Gain of Intrinsic disorder

0.35

0.02

 

Y357H

0.864

Altered Metal binding

0.33

0.01

 

Y357H

0.864

Altered Transmembrane protein

0.10

0.04

  1. SUB Amino acid substitution, P value < 0.05 (significant)
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BMC Genomic Data

ISSN: 2730-6844

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