Table 1 SCN9A mutations and Nav1.7 electrophysiology

I136V

D1S1

−5.7

−8

n.s.

Increased

Depolarized

9-22

[27, 29, 67]

Q10R

D1S1

−5.3

−4.8

n.s.

Unchanged

Unchanged

14

[25]

Q10K

D1S1

n.d.

n.d.

n.d.

n.d.

n.d.

0-20

[17]

I228M

D1S4

n.s.

+6.8

n.s.

n.d.

Depolarized

32-46

[20]

F216S

DIS4

−11.8

−15.6

n.s.

Increased

n.d.

n.d.

[33, 102]

S211P

DIS4

−8.2

−15

n.s.

Increased

n.d.

15

[22]

S241T

DIS4/S5 linker

−8.4

−12.3

n.s.

Increased

n.d.

2.5-10

[30, 34]

I234T

DIS4/S5 linker

−18

−21

n.s.

Increased

n.d.

<1

[14, 103]

N395K

DIS6

−7.7

+13

n.s.

n.d.

n.d.

<10

[28]

V400M

DIS6

−6.5

n.s.

+7.3

Increased

n.d.

<1

[104, 105]

G616R

DIDII loop

n.s.

n.d.

+5.7

Increased

n.d.

24

[81]

L823R

DIIS4

−14.6

n.d.

−9.8

n.d.

n.d.

<1

[24]

I848T

DIIS4/S5 linker

−13.8

Hypopolarized

n.s.

Increased

Depolarized

4-8

[36, 67, 76]

L858H

DIIS4/S5 linker

−13.3

Hyperpolarized

n.s.

Increased

n.d.

4-8

[36]`[76, 106]

L858F

DIIS4/S5 linker

−9

n.s.

+3.1

Increased

n.d.

0-2

[38]

A863P

DIIS5

−8

n.s.

+10

Increased

Depolarized

Preschool

[31]

V872G

DIIS5

−9.3

n.d.

n.s.

Increased

n.d.

5

[89]

Q875E

DIIS5

−17.5

−22.8

n.s.

n.d.

n.d.

2

[13, 40]

Del-L955

DIIS6

−24

−39

n.s.

Increased

n.s.

15

[16, 21]

F1449V

DIIIDIV

−7.6

Hyperpolarized

+4.3

Unchanged

Unchanged

3

[35]

P1308L

DIIIS4/S5 linker

−9.6

n.s.

+16.1

Increased

n.s.

2

[23]

V1316A

DIIIS5

−9.3

−10

n.s.

Increased

n.d.

9

[18]

A1632E

DIVS4/S5 linker

−7

+3.5

+17

Increased

Depolarized

n.d.

[26]

W1538R

DIVS2

−8.6

n.s.

n.s.

n.d.

n.d.

3

[19]

A1632T

DIVS5

n.s.

n.s.

+8

Unchanged

Unchanged

17

[15]

A1746G

DIVS6

−15.6

−32

n.s.

n.d.

n.d.

61

[19]