Paralogue Annotation for KCNH2 residue 706

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 706
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 706

No paralogue variants have been mapped to residue 706 for KCNH2.



KCNH2QMLRVREFIRFHQIPNPLRQRLEEYFQHAW>S<YTNGIDMNAVLKGFPECLQADICLHLNRSL736
KCNH1MLNSVRDFLKLYQVPKGLSERVMDYIVSTW>S<MSRGIDTEKVLQICPKDMRADICVHLNRKV575
KCNH3RTRDLRDYIRIHRIPKPLKQRMLEYFQATW>A<VNNGIDTTELLQSLPDELRADIAMHLHKEV577
KCNH4RMKDLKDFIRVHRLPRPLKQRMLEYFQTTW>A<VNSGIDANELLRDFPDELRADIAMHLNREI551
KCNH5MLNNVRDFLKLYQVPKGLSERVMDYIVSTW>S<MSKGIDTEKVLSICPKDMRADICVHLNRKV544
KCNH6QMLRVKEFIRFHQIPNPLRQRLEEYFQHAW>S<YTNGIDMNAVLKGFPECLQADICLHLHRAL588
KCNH7QMLRVKEFIRFHQIPNPLRQRLEEYFQHAW>T<YTNGIDMNMVLKGFPECLQADICLHLNQTL739
KCNH8RTKDLKDFIRVHHLPQQLKQRMLEYFQTTW>S<VNNGIDSNELLKDFPDELRSDITMHLNKEI546
CNGA1RIDAIKQYMHFRNVSKDMEKRVIKWFDYLW>T<NKKTVDEKEVLKYLPDKLRAEIAINVHLDT473
CNGA2KIDAVKHYMQFRKVSKGMEAKVIRWFDYLW>T<NKKTVDEREILKNLPAKLRAEIAINVHLST448
CNGA3KIDSIKQYMQFRKVTKDLETRVIRWFDYLW>A<NKKTVDEKEVLKSLPDKLKAEIAINVHLDT476
CNGA4DHALVKKYMKLQHVNRKLERRVIDWYQHLQ>I<NKKMTNEVAILQHLPERLRAEVAVSVHLST342
CNGB1CMDSTVKYMNFYKIPKSVQNRVKTWYEYTW>H<SQGMLDESELMVQLPDKMRLDLAIDVNYNI956
CNGB3CMDDTIAYMNNYSIPKLVQKRVRTWYEYTW>D<SQRMLDESDLLKTLPTTVQLALAIDVNFSI518
HCN1KYKQVEQYMSFHKLPADMRQKIHDYYEHRY>Q<G-KIFDEENILNELNDPLREEIVNFNCRKL469
HCN2KYKQVEQYMSFHKLPADFRQKIHDYYEHRY>Q<G-KMFDEDSILGELNGPLREEIVNFNCRKL538
HCN3KYKQVEQYMSFHKLPADTRQRIHEYYEHRY>Q<G-KMFDEESILGELSEPLREEIINFTCRGL422
HCN4KYKQVEQYMSFHKLPPDTRQRIHDYYEHRY>Q<G-KMFDEESILGELSEPLREEIINFNCRKL589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S706Cc.2117C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome. J Cardiovasc Electrophysiol. 2004 15(2):190-9. 15028050
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.S706Fc.2117C>T Other Cardiac PhenotypeSIFT: deleterious
Polyphen: probably damaging
ReportsOther Cardiac Phenotype Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919