Paralogue Annotation for KCNH2 residue 649

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 649
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 649

No paralogue variants have been mapped to residue 649 for KCNH2.



KCNH2FSSLTSVGFGNVSPNTNSEKIFSICVMLIG>S<LMYASIFGNVSAIIQRLYSGTARYHTQMLR679
KCNH1MTSLTSVGFGNIAPSTDIEKIFAVAIMMIG>S<LLYATIFGNVTTIFQQMYANTNRYHEMLNS518
KCNH3LSSLTSVGFGNVSANTDTEKIFSICTMLIG>A<LMHAVVFGNVTAIIQRMYARRFLYHSRTRD520
KCNH4LSSLTSVGFGNVCANTDAEKIFSICTMLIG>A<LMHAVVFGNVTAIIQRMYSRRSLYHSRMKD494
KCNH5MTSLTTIGFGNIAPTTDVEKMFSVAMMMVG>S<LLYATIFGNVTTIFQQMYANTNRYHEMLNN487
KCNH6FSSLTSVGFGNVSPNTNSEKVFSICVMLIG>S<LMYASIFGNVSAIIQRLYSGTARYHTQMLR531
KCNH7FSSLTSVGFGNVSPNTNSEKIFSICVMLIG>S<LMYASIFGNVSAIIQRLYSGTARYHMQMLR682
KCNH8LSSLTSVGFGNVSANTDAEKIFSICTMLIG>A<LMHALVFGNVTAIIQRMYSRWSLYHTRTKD489
CNGA1TLTLTTIG-ETPPPVRDSEYVFVVVDFLIG>V<LIFATIVGNIGSMISNMNAARAEFQARIDA416
CNGA2TLTLTTIG-ETPPPVKDEEYLFVIFDFLIG>V<LIFATIVGNVGSMISNMNATRAEFQAKIDA391
CNGA3TLTLTTIG-ETPPPVKDEEYLFVVVDFLVG>V<LIFATIVGNVGSMISNMNASRAEFQAKIDS419
CNGA4TLILTTVG-DTPPPAREEEYLFMVGDFLLA>V<MGFATIMGSMSSVIYNMNTADAAFYPDHAL285
CNGB1VKTLITIG-GLPDPKTLFEIVFQLLNYFTG>V<FAFSVMIGQMRDVVGAATAGQTYYRSCMDS899
CNGB3VRTLITIG-GLPEPQTLFEIVFQLLNFFSG>V<FVFSSLIGQMRDVIGAATANQNYFRACMDD461
HCN1MSHMLCIGYGAQAPVSMSDLWITMLSMIVG>A<TCYAMFVGHATALIQSLDSSRRQYQEKYKQ413
HCN2MSHMLCIGYGRQAPESMTDIWLTMLSMIVG>A<TCYAMFIGHATALIQSLDSSRRQYQEKYKQ482
HCN3MSHMLCIGYGQQAPVGMPDVWLTMLSMIVG>A<TCYAMFIGHATALIQSLDSSRRQYQEKYKQ366
HCN4MSHMLCIGYGRQAPVGMSDVWLTMLSMIVG>A<TCYAMFIGHATALIQSLDSSRRQYQEKYKQ533
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S649Lc.1946C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
p.S649Pc.1945T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
Inherited ArrhythmiaLQTS Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Inherited ArrhythmiaLQTS Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429