No paralogue variants have been mapped to residue 757 for KCNH2.
| KCNH2 | DICLHLNRSLLQHCKPFRGATKGCLRALAM>K<FKTTHAPPGDTLVHAGDLLTALYFISRGSI | 787 |
| KCNH1 | DICVHLNRKVFKEHPAFRLASDGCLRALAM>E<FQTVHCAPGDLIYHAGESVDSLCFVVSGSL | 626 |
| KCNH3 | DIAMHLHKEVL-QLPLFEAASRGCLRALSL>A<LRPAFCTPGEYLIHQGDALQALYFVCSGSM | 627 |
| KCNH4 | DIAMHLNREIL-QLPLFGAASRGCLRALSL>H<IKTSFCAPGEYLLRRGDALQAHYYVCSGSL | 601 |
| KCNH5 | DICVHLNRKVFNEHPAFRLASDGCLRALAV>E<FQTIHCAPGDLIYHAGESVDALCFVVSGSL | 595 |
| KCNH6 | DICLHLHRALLQHCPAFSGAGKGCLRALAV>K<FKTTHAPPGDTLVHLGDVLSTLYFISRGSI | 639 |
| KCNH7 | DICLHLNQTLLQNCKAFRGASKGCLRALAM>K<FKTTHAPPGDTLVHCGDVLTALYFLSRGSI | 790 |
| KCNH8 | DITMHLNKEIL-QLSLFECASRGCLRSLSL>H<IKTSFCAPGEYLLRQGDALQAIYFVCSGSM | 596 |
| CNGA1 | EIAINVHLDTLKKVRIFADCEAGLLVELVL>K<LQPQVYSPGDYICKKGDIGREMYIIKEGKL | 524 |
| CNGA2 | EIAINVHLSTLKKVRIFHDCEAGLLVELVL>K<LRPQVFSPGDYICRKGDIGKEMYIIKEGKL | 499 |
| CNGA3 | EIAINVHLDTLKKVRIFQDCEAGLLVELVL>K<LRPTVFSPGDYICKKGDIGKEMYIINEGKL | 527 |
| CNGA4 | EVAVSVHLSTLSRVQIFQNCEASLLEELVL>K<LQPQTYSPGEYVCRKGDIGQEMYIIREGQL | 393 |
| CNGB1 | DLAIDVNYNIVSKVALFQGCDRQMIFDMLK>R<LRSVVYLPNDYVCKKGEIGREMYIIQAGQV | 1007 |
| CNGB3 | ALAIDVNFSIISKVDLFKGCDTQMIYDMLL>R<LKSVLYLPGDFVCKKGEIGKEMYIIKHGEV | 569 |
| HCN1 | EIVNFNCRKLVATMPLFANADPNFVTAMLS>K<LRFEVFQPGDYIIREGAVGKKMYFIQHGVA | 520 |
| HCN2 | EIVNFNCRKLVASMPLFANADPNFVTAMLT>K<LKFEVFQPGDYIIREGTIGKKMYFIQHGVV | 589 |
| HCN3 | EIINFTCRGLVAHMPLFAHADPSFVTAVLT>K<LRFEVFQPGDLVVREGSVGRKMYFIQHGLL | 473 |
| HCN4 | EIINFNCRKLVASMPLFANADPNFVTSMLT>K<LRFEVFQPGDYIIREGTIGKKMYFIQHGVV | 640 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K757N | c.2271G>C | Inherited Arrhythmia | LQTS | rs199472992 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Inherited Arrhythmia | LQTS | 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 Arrhythmia | LQTS | 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 | |||