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Table 2 Characteristics of the Fabry mutations gathered from literature

From: Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Mutant: nucleotide

aminoacid

PSSM

MUPRO

SDM

PSAmc

PSAsc

sec_stru

domain

ACT.SITE

resp

ref

c.58G > C

p.A20P

-2

-2.00

NA

NA

NA

NA

leader pep.

No

Yes

[2]

c.153G > A

p.M51I

-2

-0.51

0.414

0.0

27.1

O(15)

TIM

No

Yes

[41]

c.155G > A

p.C52Y

-5

-1.37

-1.582

29.5

27.3

O(15)

TIM

No

No

[14]

c.194G > C

p.S65T

-1

-0.85

0.330

0.0

25.5

O(15)

TIM

No

Yes

[42]

c.214A > G

p.M72V

-1

-0.27

-1.232

0.0

0.0

A(10)

TIM

No

Yes

[2]

c.426C > G

p.C142W

-7

-0.91

0.167

64.6

33.8

O(15)

TIM

Yes

No

[18]

c.436C > T

p.P146S

-3

-0.44

-0.983

1.4

19.5

O(15)

TIM

No

Yes

[2]

c.467C > T

p.A156V

-1

-0.26

-0.357

0.0

0.6

A(11)

TIM

No

Yes

[2]

c.496C > G

p.L166

0

-1.18

-0.244

0.0

3.9

B(5)

TIM

No

Yes

[2]

c.548G > C

p.G183A

-2

-0.85

2.330

1.5

5.3

A(18)

TIM

No

Yes

[14]

c.581C > T

p.T194I

-2

-0.57

2.008

76.0

2.6

A(18)

TIM

No

Yes

[43]

c.647A > G

p.Y216C

-3

-1.16

-2.319

11.3

1.9

A(6)

TIM

No

Yes

[14]

c.692A > G

p.D231G

-2

-2.24

-2.726

49.3

66.7

P(5)

TIM

Yes

No

[18]

c.796G > A

p.D266N

-3

-1.30

-0.754

12.8

4.4

O(12)

TIM

No

No

[18]

c.868A > C

p.M290L

0

-0.18

0.486

0.5

2.9

A(14)

TIM

No

Yes

[44]

c.890C > T

p.S297F

-3

-0.73

2.714

0.0

0.0

B(7)

TIM

Yes

No

[18]

c.1118G > A

p.G373D

-3

-0.98

0.251

0.5

0.3

O(12)

beta

No

No

[2]

c.1117G > A

p.G373S

-3

-1.18

-0.256

0.5

0.3

O(12)

beta

No

No

[2]

c.1244T > C

p.L415P

-2

-2.06

-1.232

0.0

0.7

B(9)

beta

No

No

[45]

  1. Mutations not included in the training set of the predictive method are listed with the scores obtained by PSSM (assessment of conservation in homologous sequences), the scores obtained by SDM and MUPRO (assessment of the effect of mutations on thermodynamic stability), % main chain accessibility (PSAmc), % side chain accessibility (PSAsc), occurrence in A alpha-helix, B beta strand, P poly-proline II or O other (with the length of the secondary structure in which the mutation occur in brackets), occurrence in specific structural domains and in the active site. Responsiveness in vitro to 1-deoxy-galactonojirimycin was deduced by literature and the reference paper is reported alongside.