Skip to main content

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