Paralogue Annotation for KCNH2 residue 732

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 732
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 732

No paralogue variants have been mapped to residue 732 for KCNH2.



KCNH2QHAWSYTNGIDMNAVLKGFPECLQADICLH>L<NRSLLQHCKPFRGATKGCLRALAMKFKTTH762
KCNH1VSTWSMSRGIDTEKVLQICPKDMRADICVH>L<NRKVFKEHPAFRLASDGCLRALAMEFQTVH601
KCNH3QATWAVNNGIDTTELLQSLPDELRADIAMH>L<HKEVL-QLPLFEAASRGCLRALSLALRPAF602
KCNH4QTTWAVNSGIDANELLRDFPDELRADIAMH>L<NREIL-QLPLFGAASRGCLRALSLHIKTSF576
KCNH5VSTWSMSKGIDTEKVLSICPKDMRADICVH>L<NRKVFNEHPAFRLASDGCLRALAVEFQTIH570
KCNH6QHAWSYTNGIDMNAVLKGFPECLQADICLH>L<HRALLQHCPAFSGAGKGCLRALAVKFKTTH614
KCNH7QHAWTYTNGIDMNMVLKGFPECLQADICLH>L<NQTLLQNCKAFRGASKGCLRALAMKFKTTH765
KCNH8QTTWSVNNGIDSNELLKDFPDELRSDITMH>L<NKEIL-QLSLFECASRGCLRSLSLHIKTSF571
CNGA1DYLWTNKKTVDEKEVLKYLPDKLRAEIAIN>V<HLDTLKKVRIFADCEAGLLVELVLKLQPQV499
CNGA2DYLWTNKKTVDEREILKNLPAKLRAEIAIN>V<HLSTLKKVRIFHDCEAGLLVELVLKLRPQV474
CNGA3DYLWANKKTVDEKEVLKSLPDKLKAEIAIN>V<HLDTLKKVRIFQDCEAGLLVELVLKLRPTV502
CNGA4QHLQINKKMTNEVAILQHLPERLRAEVAVS>V<HLSTLSRVQIFQNCEASLLEELVLKLQPQT368
CNGB1EYTWHSQGMLDESELMVQLPDKMRLDLAID>V<NYNIVSKVALFQGCDRQMIFDMLKRLRSVV982
CNGB3EYTWDSQRMLDESDLLKTLPTTVQLALAID>V<NFSIISKVDLFKGCDTQMIYDMLLRLKSVL544
HCN1EHRYQG-KIFDEENILNELNDPLREEIVNF>N<CRKLVATMPLFANADPNFVTAMLSKLRFEV495
HCN2EHRYQG-KMFDEDSILGELNGPLREEIVNF>N<CRKLVASMPLFANADPNFVTAMLTKLKFEV564
HCN3EHRYQG-KMFDEESILGELSEPLREEIINF>T<CRGLVAHMPLFAHADPSFVTAVLTKLRFEV448
HCN4EHRYQG-KMFDEESILGELSEPLREEIINF>N<CRKLVASMPLFANADPNFVTSMLTKLRFEV615
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L732Pc.2195T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661