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 |
E161K(1)
|
|
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.