Paralogue Annotation for KCNH2 residue 757

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 757
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 757

No paralogue variants have been mapped to residue 757 for KCNH2.



KCNH2DICLHLNRSLLQHCKPFRGATKGCLRALAM>K<FKTTHAPPGDTLVHAGDLLTALYFISRGSI787
KCNH1DICVHLNRKVFKEHPAFRLASDGCLRALAM>E<FQTVHCAPGDLIYHAGESVDSLCFVVSGSL626
KCNH3DIAMHLHKEVL-QLPLFEAASRGCLRALSL>A<LRPAFCTPGEYLIHQGDALQALYFVCSGSM627
KCNH4DIAMHLNREIL-QLPLFGAASRGCLRALSL>H<IKTSFCAPGEYLLRRGDALQAHYYVCSGSL601
KCNH5DICVHLNRKVFNEHPAFRLASDGCLRALAV>E<FQTIHCAPGDLIYHAGESVDALCFVVSGSL595
KCNH6DICLHLHRALLQHCPAFSGAGKGCLRALAV>K<FKTTHAPPGDTLVHLGDVLSTLYFISRGSI639
KCNH7DICLHLNQTLLQNCKAFRGASKGCLRALAM>K<FKTTHAPPGDTLVHCGDVLTALYFLSRGSI790
KCNH8DITMHLNKEIL-QLSLFECASRGCLRSLSL>H<IKTSFCAPGEYLLRQGDALQAIYFVCSGSM596
CNGA1EIAINVHLDTLKKVRIFADCEAGLLVELVL>K<LQPQVYSPGDYICKKGDIGREMYIIKEGKL524
CNGA2EIAINVHLSTLKKVRIFHDCEAGLLVELVL>K<LRPQVFSPGDYICRKGDIGKEMYIIKEGKL499
CNGA3EIAINVHLDTLKKVRIFQDCEAGLLVELVL>K<LRPTVFSPGDYICKKGDIGKEMYIINEGKL527
CNGA4EVAVSVHLSTLSRVQIFQNCEASLLEELVL>K<LQPQTYSPGEYVCRKGDIGQEMYIIREGQL393
CNGB1DLAIDVNYNIVSKVALFQGCDRQMIFDMLK>R<LRSVVYLPNDYVCKKGEIGREMYIIQAGQV1007
CNGB3ALAIDVNFSIISKVDLFKGCDTQMIYDMLL>R<LKSVLYLPGDFVCKKGEIGKEMYIIKHGEV569
HCN1EIVNFNCRKLVATMPLFANADPNFVTAMLS>K<LRFEVFQPGDYIIREGAVGKKMYFIQHGVA520
HCN2EIVNFNCRKLVASMPLFANADPNFVTAMLT>K<LKFEVFQPGDYIIREGTIGKKMYFIQHGVV589
HCN3EIINFTCRGLVAHMPLFAHADPSFVTAVLT>K<LRFEVFQPGDLVVREGSVGRKMYFIQHGLL473
HCN4EIINFNCRKLVASMPLFANADPNFVTSMLT>K<LRFEVFQPGDYIIREGTIGKKMYFIQHGVV640
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K757Nc.2271G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
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
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
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