Paralogue Annotation for KCNH2 residue 609

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 609
Reference Amino Acid: D - Aspartate
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 609

No paralogue variants have been mapped to residue 609 for KCNH2.



KCNH2----G------------------LGGPSIK>D<KYVTALYFTFSSLTSVGFGNVSPNTNSEKI639
KCNH1--GSG-----------S--GK-WEGGPSKN>S<VYISSLYFTMTSLTSVGFGNIAPSTDIEKI478
KCNH3GNSSGQSDNCSSSSEANGTGLELLGGPSLR>S<AYITSLYFALSSLTSVGFGNVSANTDTEKI480
KCNH4----------------------SVGGPSRR>S<AYIAALYFTLSSLTSVGFGNVCANTDAEKI454
KCNH5--T-S-----------A--GI-WEGGPSKD>S<LYVSSLYFTMTSLTTIGFGNIAPTTDVEKM447
KCNH6----D-----------P------ASGPSVQ>D<KYVTALYFTFSSLTSVGFGNVSPNTNSEKV491
KCNH7----D-----------S------SSGPSIK>D<KYVTALYFTFSSLTSVGFGNVSPNTNSEKI642
KCNH8----------------------TLGGPSIR>S<AYIAALYFTLSSLTSVGFGNVSANTDAEKI449
CNGA1------------------------EFGRLA>R<KYVYSLYWSTLTLTTIG-ETPPPVRDSEYV376
CNGA2------------------------EYGYLA>R<EYIYCLYWSTLTLTTIG-ETPPPVKDEEYL351
CNGA3------------------------EHGRLS>R<KYIYSLYWSTLTLTTIG-ETPPPVKDEEYL379
CNGA4------------------------GFERLR>R<QYLYSFYFSTLILTTVG-DTPPPAREEEYL245
CNGB1---------------------------GVG>N<SYIRCYYFAVKTLITIG-GLPDPKTLFEIV859
CNGB3---------------------------GEG>N<EYLRCYYWAVRTLITIG-GLPEPQTLFEIV421
HCN1------------------------VNDSWG>K<QYSYALFKAMSHMLCIGYGAQAPVSMSDLW373
HCN2------------------------VNHSWS>E<LYSFALFKAMSHMLCIGYGRQAPESMTDIW442
HCN3------------------------VNHSWG>R<QYSHALFKAMSHMLCIGYGQQAPVGMPDVW326
HCN4------------------------VNNSWG>K<QYSYALFKAMSHMLCIGYGRQAPVGMSDVW493
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D609Gc.1826A>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome. Clin Sci (Lond). 2005 108(2):143-50. 15500450
Inherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810
p.D609Hc.1825G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810
p.D609Nc.1825G>A Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 102(10):1178-85. 10973849
Inherited ArrhythmiaLQTS Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations. Circulation. 2001 103(8):1095-101. 11222472
Inherited ArrhythmiaLQTS Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002 105(7):794-9. 11854117
Inherited ArrhythmiaLQTS Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636
Inherited ArrhythmiaLQTS Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810
p.D609Yc.1825G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041