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Table 1 ΔB ct values of NaV1.7 mutations associated to IEM, SFN and PEPD

From: Network topology of NaV1.7 mutations in sodium channel-related painful disorders

Disease

Mutation

Amino acid

Properties

Channel

Part

ΔB ct

Reference

IEM

I136V

=H Φ O

VSD (S1;DI)

0.12

[12, 58, 69]

S211P

Polar → H Φ O

VSD (S4;DI)

-1.09

[70]

F216S

H Φ O → polar

VSD (S4;DI)

-1.71

[11, 57]

L823R

H Φ O → charged

VSD (S4;DII)

1.23

[7, 71]

W1538R

H Φ O → charged

VSD (S2-S3;DIV)

0.18

[72]

I234T

H Φ O → polar

S4-S5 (DI)

2.33

[73]

S241T

=Polar

S4-S5 (DI)

0.34

[23, 74, 75]

I848T

H Φ O → polar

S4-S5 (DII)

-5.83

[4, 9, 17, 47, 59]

L858H

H Φ O → charged

S4-S5 (DII)

-1.85

[4, 9, 17]

L858F

=H Φ O

S4-S5 (DII)

-1.74

[5, 11, 76]

G856Da

H Φ O → charged

S4-S5 (DII)

-0.55

[19]

A863P

=H Φ O

S4-S5 (DII)

-0.32

[6]

P1308L

=H Φ O

S4-S5 (DIII)

0.04

[21]

V1316A

=H Φ O

S4-S5 (DIIII)

0.36

[47, 77]

A1632Eb

H Φ O → charged

S4-S5 (DIV)

0.27

[78]

N395K

polar → charged

Pore (S6;DI)

5.32

[11, 79]

V400M

=H Φ O

Pore (S6;DI)

-0.68

[23, 80]

V872G

=H Φ O

Pore (S5;DI)

-2.48

[81]

F1449V

=H Φ O

Pore (S6;DIII)

-0.51

[10, 23]

A1746G

=H Φ O

Pore (S6;DIV)

1.40

[72]

SFN

R185H

=charged

VSD (S2-S3;DI)

0

[18]

I228M

=H Φ O

VSD (S4;DI)

2.04

[18, 82]

I739V

=H Φ O

VSD (S1;DII)

0.54

[18, 83]

M1532I

=H Φ O

VSD (S2-S3;DIV)

0.15

[18]

M932L

=H Φ O

Loop Pore (DII)

0.46

[18]

PEPD

V1298D

H Φ O → charged

S4-S5 (DIII)

-0.81

[14]

V1298F

=H Φ O

S4-S5 (DIII)

-0.004

[14, 15, 21]

V1299F

=H Φ O

S4-S5 (DIII)

0.07

[14, 15, 17]

G1607R

H Φ O → charged

S4-S5 (DIII)

0.62

[84]

M1627K

H Φ O → charged

S4-S5 (DIV)

1.22

[14, 16, 17, 85]

  1. IEM Inherited erythromelalgia, SFN Small Fibre Neuropathy, PEPD Paroxysmal extreme pain disorder, nABN no biophysical abnormalities, H Φ O Hydrophobic. ΔB ct was calculated as (mutated B ct – Wild-type B ct ) × 100
  2. aThis mutation associates with clinical features of IEM and SFN
  3. bThis mutation causes symptoms common both to IEM and PEPD