From: Network topology of NaV1.7 mutations in sodium channel-related painful disorders
Type | Mutation | Amino acid properties | Channel Part | ΔB ct |
---|---|---|---|---|
hSNP | S126A | Polar → H Φ O | VSD (S1;DI) | 0 |
L127A | =H Φ O | VSD (S1;DI) | 0.12 | |
M145L | =H Φ O | VSD (S1;DI) | 0 | |
N146S | =Polar | VSD (S1;DI) | 0.020 | |
V194I | =H Φ O | VSD (S3;DI) | -0.14 | |
L201V | =H Φ O | VSD (S2;DI) | 0.259 | |
N206D | Polar → Charged | VSD (S2;DI) | -0.037 | |
E759D | =Charged | VSD (S1-S2;DII) | -0.18 | |
A766T | H Φ O → polar | VSD (S2;DII) | 0.20 | |
A766V | =H Φ O | VSD (S2;DII) | 0.06 | |
I767V | =H Φ O | VSD (S2;DII) | 0.13 | |
V795I | =H Φ O | VSD (S3;DII) | -0.72 | |
A815S | H Φ O → polar | VSD (S3-S4;DII) | 0.24 | |
K1176R | =Charged | VSD (S1;DIII) | 0.0004 | |
R1207K | =Charged | VSD (S1-S2;DIII) | -0.19 | |
T1210N | =Polar | VSD (S1-S2;DIII) | 0 | |
I1235V | =H Φ O | VSD (S2;DIII) | 0 | |
A1505V | =H Φ O | VSD (S1;DIV) | 0.00026 | |
S1509T | =Polar | VSD (S1;DIV) | 0.092 | |
S1509A | Polar → H Φ O | VSD (S1;DIV) | 0.0084 | |
Q1530P | Polar → H Φ O | VSD (S1-S2;DIV) | -0.166 | |
Q1530K | Polar → Charged | VSD (S1-S2;DIV) | 0.20 | |
Q1530D | =Polar | VSD (S1-S2;DIV) | 0.066 | |
H1531Y | Charged → Polar | VSD (S1-S2;DIV) | 0.12 | |
M1532V | =H Φ O | VSD (S1-S2;DIV) | 0.66 | |
E1534D | =Charged | VSD (S1-S2;DIV) | 0.067 | |
Y1537N | =Polar | VSD (S1-S2;DIV) | 0.63 | |
T1548S | =Polar | VSD (S2;DIV) | 0.085 | |
H1560Y | Charged → Polar | VSD (S2-S3;DIV) | -0.20 | |
H1560C | =H Φ O | VSD (S2-S3;DIV) | 0.17 | |
V1565I | =H Φ O | VSD (S2-S3;DIV) | -0.45 | |
I1577L | =H Φ O | VSD (S3;DIV) | -0.07 | |
D1586E | =Charged | VSD (S3;DIV) | 0.07 | |
T1590K | Polar → Charged | VSD (S3-S4;DIV) | 0.07 | |
T1590R | Polar → Charged | VSD (S3-S4;DIV) | 0.29 | |
V1613I | =H Φ O | VSD (S4;DIV) | -0.67 | |
nABN | N1245Sa | =polar | VSD (S2-S3;DIII) | -0.05 |
L1267Va | =H Φ O | VSD (S3;DIII) | 0 | |
V1428I | =H Φ O | Pore (S6;DIII) | 0.19 | |
T920N | =Polar | Loop-P (DII) | 0.04 | |
hSNP | D890E | =Charged | Loop-P (DII) | -0.13 |
D890V | Charged → H Φ O | Loop-P (DII) | -0.13 | |
T1398M | Polar → H Φ O | Loop-P (DIII) | -0.14 | |
I1399D | H Φ O → Charged | Loop-P (DIII) | -1.63 | |
D1411S | Charged → Polar | Loop-P (DIII) | -0.20 | |
D1411N | Charged → Polar | Loop-P (DIII) | -0.16 | |
K1412I | Charged → H Φ O | Loop-P (DIII) | -0.0033 | |
K1412E | =Charged | Loop-P (DIII) | -0.067 | |
K1415I | Charged → H Φ O | Loop-P (DIII) | 0.038 | |
S1419N | =Polar | Loop-P (DIII) | 0.001 | |
D1662A | Charged → H Φ O | Loop-P (DIV) | -0.43 | |
G1674A | =H Φ O | Loop-P (DIV) | -0.71 | |
K1700A | Charged → H Φ O | Loop-P (DIV) | -0.22 |