Paralogue Annotation for KCNH2 residue 654

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 654
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 654

No paralogue variants have been mapped to residue 654 for KCNH2.



KCNH2SVGFGNVSPNTNSEKIFSICVMLIGSLMYA>S<IFGNVSAIIQRLYSGTARYHTQMLRVREFI684
KCNH1SVGFGNIAPSTDIEKIFAVAIMMIGSLLYA>T<IFGNVTTIFQQMYANTNRYHEMLNSVRDFL523
KCNH3SVGFGNVSANTDTEKIFSICTMLIGALMHA>V<VFGNVTAIIQRMYARRFLYHSRTRDLRDYI525
KCNH4SVGFGNVCANTDAEKIFSICTMLIGALMHA>V<VFGNVTAIIQRMYSRRSLYHSRMKDLKDFI499
KCNH5TIGFGNIAPTTDVEKMFSVAMMMVGSLLYA>T<IFGNVTTIFQQMYANTNRYHEMLNNVRDFL492
KCNH6SVGFGNVSPNTNSEKVFSICVMLIGSLMYA>S<IFGNVSAIIQRLYSGTARYHTQMLRVKEFI536
KCNH7SVGFGNVSPNTNSEKIFSICVMLIGSLMYA>S<IFGNVSAIIQRLYSGTARYHMQMLRVKEFI687
KCNH8SVGFGNVSANTDAEKIFSICTMLIGALMHA>L<VFGNVTAIIQRMYSRWSLYHTRTKDLKDFI494
CNGA1TIG-ETPPPVRDSEYVFVVVDFLIGVLIFA>T<IVGNIGSMISNMNAARAEFQARIDAIKQYM421
CNGA2TIG-ETPPPVKDEEYLFVIFDFLIGVLIFA>T<IVGNVGSMISNMNATRAEFQAKIDAVKHYM396
CNGA3TIG-ETPPPVKDEEYLFVVVDFLVGVLIFA>T<IVGNVGSMISNMNASRAEFQAKIDSIKQYM424
CNGA4TVG-DTPPPAREEEYLFMVGDFLLAVMGFA>T<IMGSMSSVIYNMNTADAAFYPDHALVKKYM290
CNGB1TIG-GLPDPKTLFEIVFQLLNYFTGVFAFS>V<MIGQMRDVVGAATAGQTYYRSCMDSTVKYM904
CNGB3TIG-GLPEPQTLFEIVFQLLNFFSGVFVFS>S<LIGQMRDVIGAATANQNYFRACMDDTIAYM466
HCN1CIGYGAQAPVSMSDLWITMLSMIVGATCYA>M<FVGHATALIQSLDSSRRQYQEKYKQVEQYM418
HCN2CIGYGRQAPESMTDIWLTMLSMIVGATCYA>M<FIGHATALIQSLDSSRRQYQEKYKQVEQYM487
HCN3CIGYGQQAPVGMPDVWLTMLSMIVGATCYA>M<FIGHATALIQSLDSSRRQYQEKYKQVEQYM371
HCN4CIGYGRQAPVGMSDVWLTMLSMIVGATCYA>M<FIGHATALIQSLDSSRRQYQEKYKQVEQYM538
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S654Gc.1960A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487
Inherited ArrhythmiaLQTS Polygenic Case of Long QT Syndrome Confirmed through Functional Characterization Informs the Interpretation of Genetic Screening Results. HeartRhythm Case Rep. 2015 1(4):201-205. 26213684