No paralogue variants have been mapped to residue 723 for KCNH2.
| KCNH2 | LRQRLEEYFQHAWSYTNGIDMNAVLKGFPE>C<LQADICLHLNRSLLQHCKPFRGATKGCLRA | 753 |
| KCNH1 | LSERVMDYIVSTWSMSRGIDTEKVLQICPK>D<MRADICVHLNRKVFKEHPAFRLASDGCLRA | 592 |
| KCNH3 | LKQRMLEYFQATWAVNNGIDTTELLQSLPD>E<LRADIAMHLHKEVL-QLPLFEAASRGCLRA | 593 |
| KCNH4 | LKQRMLEYFQTTWAVNSGIDANELLRDFPD>E<LRADIAMHLNREIL-QLPLFGAASRGCLRA | 567 |
| KCNH5 | LSERVMDYIVSTWSMSKGIDTEKVLSICPK>D<MRADICVHLNRKVFNEHPAFRLASDGCLRA | 561 |
| KCNH6 | LRQRLEEYFQHAWSYTNGIDMNAVLKGFPE>C<LQADICLHLHRALLQHCPAFSGAGKGCLRA | 605 |
| KCNH7 | LRQRLEEYFQHAWTYTNGIDMNMVLKGFPE>C<LQADICLHLNQTLLQNCKAFRGASKGCLRA | 756 |
| KCNH8 | LKQRMLEYFQTTWSVNNGIDSNELLKDFPD>E<LRSDITMHLNKEIL-QLSLFECASRGCLRS | 562 |
| CNGA1 | MEKRVIKWFDYLWTNKKTVDEKEVLKYLPD>K<LRAEIAINVHLDTLKKVRIFADCEAGLLVE | 490 |
| CNGA2 | MEAKVIRWFDYLWTNKKTVDEREILKNLPA>K<LRAEIAINVHLSTLKKVRIFHDCEAGLLVE | 465 |
| CNGA3 | LETRVIRWFDYLWANKKTVDEKEVLKSLPD>K<LKAEIAINVHLDTLKKVRIFQDCEAGLLVE | 493 |
| CNGA4 | LERRVIDWYQHLQINKKMTNEVAILQHLPE>R<LRAEVAVSVHLSTLSRVQIFQNCEASLLEE | 359 |
| CNGB1 | VQNRVKTWYEYTWHSQGMLDESELMVQLPD>K<MRLDLAIDVNYNIVSKVALFQGCDRQMIFD | 973 |
| CNGB3 | VQKRVRTWYEYTWDSQRMLDESDLLKTLPT>T<VQLALAIDVNFSIISKVDLFKGCDTQMIYD | 535 |
| HCN1 | MRQKIHDYYEHRYQG-KIFDEENILNELND>P<LREEIVNFNCRKLVATMPLFANADPNFVTA | 486 |
| HCN2 | FRQKIHDYYEHRYQG-KMFDEDSILGELNG>P<LREEIVNFNCRKLVASMPLFANADPNFVTA | 555 |
| HCN3 | TRQRIHEYYEHRYQG-KMFDEESILGELSE>P<LREEIINFTCRGLVAHMPLFAHADPSFVTA | 439 |
| HCN4 | TRQRIHDYYEHRYQG-KMFDEESILGELSE>P<LREEIINFNCRKLVASMPLFANADPNFVTS | 606 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C723R | c.2167T>C | Putative Benign | rs199472987 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | |||
| Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| p.Cys723Tyr | c.2168G>A | Unknown | SIFT: Polyphen: | ||