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 | |
S211P | Polar → H Φ O | VSD (S4;DI) | -1.09 | [70] | |
F216S | H Φ O → polar | VSD (S4;DI) | -1.71 | ||
L823R | H Φ O → charged | VSD (S4;DII) | 1.23 | ||
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 | ||
I848T | H Φ O → polar | S4-S5 (DII) | -5.83 | ||
L858H | H Φ O → charged | S4-S5 (DII) | -1.85 | ||
L858F | =H Φ O | S4-S5 (DII) | -1.74 | ||
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 | ||
A1632Eb | H Φ O → charged | S4-S5 (DIV) | 0.27 | [78] | |
N395K | polar → charged | Pore (S6;DI) | 5.32 | ||
V400M | =H Φ O | Pore (S6;DI) | -0.68 | ||
V872G | =H Φ O | Pore (S5;DI) | -2.48 | [81] | |
F1449V | =H Φ O | Pore (S6;DIII) | -0.51 | ||
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 | ||
I739V | =H Φ O | VSD (S1;DII) | 0.54 | ||
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 | ||
V1299F | =H Φ O | S4-S5 (DIII) | 0.07 | ||
G1607R | H Φ O → charged | S4-S5 (DIII) | 0.62 | [84] | |
M1627K | H Φ O → charged | S4-S5 (DIV) | 1.22 |