- Sick Sinus Syndrome -
- Sinus Node Dysfunction -

HCN4

Sequence references for HCN4:
OMIM: 605206 - Gene: 10021; Unigene: Hs.225671; Map viewer: 15q24-25
AA numbering is based on Gene Bank cDNA: AJ132429
Nucleotide numbering starts from ATG

Nucleotide Change Coding Effect Mutation Type Region Phenotype Reference
1631delC P544+30X Deletion/frameshift C-term-CNBD SND Schulze-Bahr 2003
G1657A D553N Missense C-term-CNBD SND Ueda K et al 2004

SND= Sinus Node Dysfunction


SCN5A
Since Sinus node dysfunction has been associated also with cardiac conduction defect and DCM phenotype see also

here; (Sequence references for SCN5A also included)

Nucleotide Change Coding Effect Mutation Type Region Phenotype Reference
G481A
Missense DI/S2 SSS+CCB(1) Smits et al. 2005
G1100A R367H
Missense DI/S5-S6 Atrial standstill(1) Takehara et al, 2004
C3893T (m)*
P1298L (m)
Missense DIII/S3 SSS Benson et al. 2003
G4222A* (p)
G1408R (2) (p)
DIII/S5-S6
C4867T* (m) R1623X (m) Missense DIV/S4 SSS Benson et al. 2003
C659T* (p) T220I (p) DI/S4
4849–4851del (m) delF1617(3) (m) Missense DIV/S3-S4 SSS Benson et al. 2003
G4895A (p) R1632H (4) (p) DIV/S4

*All affected individuals were heterozygous carriers - each table row represents a proband with his/her two SCN5A mutations. SSS= Sick Sinus Syndrome (author's definition); OMIM reference: 163800.; m= maternally inherited; p = paternally inherited; CCD = Cardiac COnduction Defect

(1) Also causing Bugada syndrome ECG pattern
(2)
Already reported in association with Brugada syndrome and conduction block and coded G1406R ( reference cDNA used by Benson et al. was not reported)
(3) Already reported as a LQTS mutation
(4) Codon 1623 is also affected in two distinct LQTS mutations.

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