Progressive Cardiac Conduction Defect (PCCD)
And Mixed SCN5A-related phenotypes

SCN5A Polymorphisms - - SCN5A Locus Table

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OMIM: 604559 - - 140400

AA numbering is based on Gene Bank cDNA: NM_000335:

Nucleotide numbering starts from ATG

Nucleotide Change	Aminoacid Change		Mutation Type	Region	Phenotype	Reference
G468A	W156X(1)		Nonsense	DI/S1-S2	CCD(1)	Bezzina et al. 2003
G481A	E161K		Missense	DI/S2	SSS+CCD	Smits et al. 2005
C659T	T220I	Not done	Missense	DI/S4	DCM(2)	Olson et al 2005
C672T	R225W		Missense	DI/S4	CCD	Bezzina et al. 2003
G892A	G298S		Missense	DI/ S5-S6	CCD	Wang et al 2002
C1535T	T512I(3)		Missense	DI-DII	CCD	Viswanathan et al. 2003
G1541T	G514C		Missense	DI-DII	CCD	Tan et al 2001
C610T	T613M(6)		Missense	DI-DII	CCD	Shim et al 2005
	R814W		Missense	DII/S3	DCM(2)	Olson et al 2005
2550-2551insTG	S851fs	Not done	Frameshift	DII/S5	DCM(2)	Olson et al 2005
G3823A	D1275N	Not done	Missense	DIII/S2	CCD+DCM(2)	McNair et al. 2004; Olson et al 2005
T>C	IVS22+2		Splice Mutation	DIII/S4-S5	CCD	Schott et al.1999
C3995T	P1332L		Missense	DIII/S4-S5	RW+CCD	Kehl HG et al 2004
A4372T	G1406R		Missense	DIII/S5-S6	CCD+Brugada(4)	Kyndt et al. 2002
	W1421X		Nonesense	DIII/S5-S6	CCD+sudden death	Niu et al. 2006
	D1595N		Missense	DIV/S5-S6	CCD	Wang et al 2002
G4783C	D1595H	Not done	Missense	DIV/S5-S6	DCM(2)	Olson et al 2005
	S1710L		Missense	DIV/S5-S6	CCD+Brugada(5)	Shirai et al. 2002
delG5280*	S1710+75X		Frameshift	DIV S5-S6	CCD	Schott et al 1999
G5329A	V1777M		Missense	C-term	RW+AVblock (6)	Lupoglazof et al. 2001

(1)Associated with R225W (see EP data) (2) DCM = Dilated Cardiomyopathy. (3)Associated with polymorphism H558R on the same allele (see comments in "EP data")(4) Also associated with Brugada syndrome phenotype (5) Rate-dependent right bundle branch block; the same mutation has also been associated with a BS phenotype.; (6) Homozygous mutation associated with rate-dependent 2:1 AV block. (6) Found in infant with long QT and 2:1 AV block see here.
* 5131 from ATG.