Paralogue Annotation for KCNH2 residue 728

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 728
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 728

No paralogue variants have been mapped to residue 728 for KCNH2.



KCNH2EEYFQHAWSYTNGIDMNAVLKGFPECLQAD>I<CLHLNRSLLQHCKPFRGATKGCLRALAMKF758
KCNH1MDYIVSTWSMSRGIDTEKVLQICPKDMRAD>I<CVHLNRKVFKEHPAFRLASDGCLRALAMEF597
KCNH3LEYFQATWAVNNGIDTTELLQSLPDELRAD>I<AMHLHKEVL-QLPLFEAASRGCLRALSLAL598
KCNH4LEYFQTTWAVNSGIDANELLRDFPDELRAD>I<AMHLNREIL-QLPLFGAASRGCLRALSLHI572
KCNH5MDYIVSTWSMSKGIDTEKVLSICPKDMRAD>I<CVHLNRKVFNEHPAFRLASDGCLRALAVEF566
KCNH6EEYFQHAWSYTNGIDMNAVLKGFPECLQAD>I<CLHLHRALLQHCPAFSGAGKGCLRALAVKF610
KCNH7EEYFQHAWTYTNGIDMNMVLKGFPECLQAD>I<CLHLNQTLLQNCKAFRGASKGCLRALAMKF761
KCNH8LEYFQTTWSVNNGIDSNELLKDFPDELRSD>I<TMHLNKEIL-QLSLFECASRGCLRSLSLHI567
CNGA1IKWFDYLWTNKKTVDEKEVLKYLPDKLRAE>I<AINVHLDTLKKVRIFADCEAGLLVELVLKL495
CNGA2IRWFDYLWTNKKTVDEREILKNLPAKLRAE>I<AINVHLSTLKKVRIFHDCEAGLLVELVLKL470
CNGA3IRWFDYLWANKKTVDEKEVLKSLPDKLKAE>I<AINVHLDTLKKVRIFQDCEAGLLVELVLKL498
CNGA4IDWYQHLQINKKMTNEVAILQHLPERLRAE>V<AVSVHLSTLSRVQIFQNCEASLLEELVLKL364
CNGB1KTWYEYTWHSQGMLDESELMVQLPDKMRLD>L<AIDVNYNIVSKVALFQGCDRQMIFDMLKRL978
CNGB3RTWYEYTWDSQRMLDESDLLKTLPTTVQLA>L<AIDVNFSIISKVDLFKGCDTQMIYDMLLRL540
HCN1HDYYEHRYQG-KIFDEENILNELNDPLREE>I<VNFNCRKLVATMPLFANADPNFVTAMLSKL491
HCN2HDYYEHRYQG-KMFDEDSILGELNGPLREE>I<VNFNCRKLVASMPLFANADPNFVTAMLTKL560
HCN3HEYYEHRYQG-KMFDEESILGELSEPLREE>I<INFTCRGLVAHMPLFAHADPSFVTAVLTKL444
HCN4HDYYEHRYQG-KMFDEESILGELSEPLREE>I<INFNCRKLVASMPLFANADPNFVTSMLTKL611
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I728Fc.2182A>T Inherited ArrhythmiaLQTSrs199473533SIFT: deleterious
Polyphen: probably damaging
ReportsInherited 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
p.I728Nc.2183T>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977