Table 1. The documented disease... | Rockefeller University Press

Table 1.

The documented disease associations and gating property impacts of R1, R2, and R3 gating-charge mutations of VSD_I and VSD_II

	Mutation residue ID in Na_v1.5			Disease-associated phenotypes from Na_v1.5 mutations^{^a}	Gating properties for Na_v1.5	References
VSD_I	R1	R219	Q	No disease association	V_1/2act: NC^{^b} V_1/2inact: NC^{^b} τ_rec: NC^{^b}	Chen et al. (1996), Gosselin-Badaroudine et al. (2012b), Moreau et al. (2018)
	R1	R219	H/P	PFHB1A, LQT3, CMD1E, and BRGDA1	I_ω: ↑ V_1/2act: → V_1/2inact: ←
	R2	R222	Q	CMD1E, RWS, LQT3, and BRGDA1	I_Max: ↑ I_ω: ↑ V_1/2act: ← V_1/2inact: ←	Daniel et al. (2019), Laurent et al. (2012), Mann et al. (2012), Moreau et al. (2015b), Nair et al. (2012)
	R3	R225	Q	LQT3	V_1/2act: → V_1/2inact: →	Beckermann et al. (2014), Chen et al. (1996), Moreau et al. (2015a), (2015b), Strege et al. (2018)
	R3	R225	W/P	PFHB1A, BRGDA1, and CIAT	I_Max: ↑/↓^{^c} I_p: ↑ I_ω: ↑ V_1/2act: ←/→^{^c} τ_rec: ↑/↓^{^c}
VSD_II	R1	R808	Q	No disease association	V_1/2act: → V_1/2inact: → τ_rec: ↓	Chen et al. (1996), Glazer et al. (2020)
	R1	R808	H/C	BRGDA1 and RWS	I_Max: ↓ V_1/2inact: ← τ_rec: ↓	Chen et al. (1996), Glazer et al. (2020)
	R2	R811	H	BRGDA1	I_Max: ↓ V_1/2inact: ← τ_rec:↓	Calloe et al. (2013)
	R3	R814	Q	BRGDA1	I_p: ↑ V_1/2inact: ←	Chen et al. (1996), Glazer et al. (2020), Kapplinger et al. (2010), Moreau et al. (2015a), Nguyen et al. (2008)
	R3	R814	W	CMD1E	I_ω: ↑ V_1/2act: ←/→^{^c} τ_rec: ↓

	Mutation residue ID in Na_v1.5			Disease-associated phenotypes from Na_v1.5 mutations^a	Gating properties for Na_v1.5	References
VSD_I	R1	R219	Q	No disease association	V_1/2act: NC^bV_1/2inact: NC^bτ_rec: NC^b	Chen et al. (1996), Gosselin-Badaroudine et al. (2012b), Moreau et al. (2018)
	R1	R219	H/P	PFHB1A, LQT3, CMD1E, and BRGDA1	I_ω: ↑V_1/2act: →V_1/2inact: ←
	R2	R222	Q	CMD1E, RWS, LQT3, and BRGDA1	I_Max: ↑I_ω: ↑V_1/2act: ←V_1/2inact: ←	Daniel et al. (2019), Laurent et al. (2012), Mann et al. (2012), Moreau et al. (2015b), Nair et al. (2012)
	R3	R225	Q	LQT3	V_1/2act: →V_1/2inact: →	Beckermann et al. (2014), Chen et al. (1996), Moreau et al. (2015a), (2015b), Strege et al. (2018)
	R3	R225	W/P	PFHB1A, BRGDA1, and CIAT	I_Max: ↑/↓^cI_p: ↑I_ω: ↑V_1/2act: ←/→^cτ_rec: ↑/↓^c
VSD_II	R1	R808	Q	No disease association	V_1/2act: →V_1/2inact: →τ_rec: ↓	Chen et al. (1996), Glazer et al. (2020)
	R1	R808	H/C	BRGDA1 and RWS	I_Max: ↓V_1/2inact: ←τ_rec: ↓	Chen et al. (1996), Glazer et al. (2020)
	R2	R811	H	BRGDA1	I_Max: ↓V_1/2inact: ←τ_rec:↓	Calloe et al. (2013)
	R3	R814	Q	BRGDA1	I_p: ↑V_1/2inact: ←	Chen et al. (1996), Glazer et al. (2020), Kapplinger et al. (2010), Moreau et al. (2015a), Nguyen et al. (2008)
	R3	R814	W	CMD1E	I_ω: ↑V_1/2act: ←/→^cτ_rec: ↓

→: right-shifted, ←: left-shifted, ↑: increase, ↓: decrease.

PFHB1A: progressive familial heart block, type 1A, LQT3: long QT syndrome 3, CMD1E: dilated cardiomyopathy 1E, BRGDA1: Brugada syndrome, and RWS: Romano–Ward syndrome.

Disease names are reported as OMIM IDs.

NC: indicates no significant change.

Indicates a discrepancy between multiple mutations or references for the same gating property.

[ViewLarge]

Gift article access

Gift article access

Gift article access

Gift article access

Sharing Unavailable