Inherited Cardiac Arrhythmia Syndromes: Focus on Molecular Mechanisms Underlying TRPM4 Channelopathies

Table 1

List of genetic variants of TRPM4 found in patients displaying cardiac conduction disorders.

Variants	Protein substitution	Diseases	Effect	Ref.
c.19G>A	p.E7K	PFHB1	G.F	[41]
c.301G>A	p.A101T	CHB	L.F	[49]
c.393G>C	p.Q131H	RBBB	n.d	[50]
c.490C>T	p.R164W	ICCD	G.F	[23]
c.878A>G	p.Q293R	AVB	n.d	[50]
c.1127T>C	p.I376T	PFHB1	G.F	[19]
c.1294G>A	p.A432T	ICCD (RBBB)	G.F/L.F	[23], [47], [48]
c.1744G>A	p.G582S	RBBB/AVB	G.F	[47]
c.1294G>A; c.1744G>A	p.A432T-p.G582S	AVB	L.E	[47]
c.2368T>C	p.Y790H	AVB	n.d	[50]
c.2531G>A	p.G844D	ICCD	G.F	[23]
c.2561A>G	p.Q854R	CHB	G.F	[49]
c.2741A>G	p.K914X	AVB	n.d	[50]
c.2908C>T	p.P970S	RBBB	n.d	[50]
c.3130A>T	p.S1044C	CHB	L.F	[49]
c.301G>A; c.3611C>T	p.A101T-P1204L	CHB	L.F	[49]

PFHB1: progressive familial heart block type I; RBBB: right bundle branch block; ICCD: isolated cardiac conduction disease; AVB: atrioventricular block; CHB: complete heart block; G.F: gain of function; L.F: loss of function; L.E: loss of expression.