No paralogue variants have been mapped to residue 915 for KCNH2.
| KCNH2 | RRRTDKDT--EQ-----PGEVSALGPGRAG>A<GPSSRGRPGG---P--WGESPSSGPSS--- | 937 |
| KCNH1 | PPDHPVRRLFQRF-----RQQKEARL-AAE>R<GGRDLDDLDV---E--KGNVLTEHASA--- | 778 |
| KCNH3 | --NTLMSTLEEKE-----TDGEQG---P-T>V<SPAPADEPSS---P--LLSPGCTSSSSAAK | 766 |
| KCNH4 | SSDKTLPSITEAE-----SGAEPGGGPRPR>-<RPLLLPNLSP---A--RPR--GSLVSLLGE | 764 |
| KCNH5 | PVDHPVRKLFQKF-----KQQKELRNQGST>Q<GDPERNQLQV---E--SRSLQNGASIT--- | 748 |
| KCNH6 | DNQSGSPH--ELGPQFPSKGYSLLGPGSQN>S<MG------AG---P--CAPG-HPDAAP--- | 784 |
| KCNH7 | ESEGEKE-------------NSTNDPEDSA>D<TIRHYQSSKR---H--FEEKKSRSSSF--- | 937 |
| KCNH8 | -INKRLPSIVEDE-----EEEEEGEEEEAV>S<LSPICTRGSS---S--RNKKVGSNKAYLGL | 751 |
| CNGA1 | VDLLQTRFARILA-----EYESMQQKLKQR>L<TKVEKFLKP-----LIDTEFSSIEGPG--- | 681 |
| CNGA2 | METLYTRFGRLLA-----EYTGAQQKLKQR>I<TVLETKMKQ-----NNEDDYLSDGMNS--- | 655 |
| CNGA3 | LDTLQTRFARLLA-----EYNATQMKMKQR>L<SQLESQVKG-----GG-DKPLADGEVPG-- | 684 |
| CNGA4 | LDDLQTKFARLLA-----ELESSALKIAYR>I<ERLEWQTREW---PMPEDLAEADDEGE--- | 553 |
| CNGB1 | TGKMGGKGAKGGK-----LAHLRARLKELA>A<LEAAAKQQEL---V--EQAKSSQDVKGE-- | 1164 |
| CNGB3 | TGKASL-----------------ARLLKLK>R<EQAAQKKENSEGGE--EEGKENEDKQKE-- | 722 |
| HCN1 | ILKQIVKHDREMV-----QAIAPINYPQMT>T<LNSTSSTTTP---T--SRMRTQSPPVYT-- | 669 |
| HCN2 | IIQEIVKYDREMV-----QQAELGQRVGLF>P<PPPPPPQVTS---A--IATLQQAAAMSF-- | 738 |
| HCN3 | MEQHLVQHDRDMA-----RGVRGRAPSTGA>Q<LSGKPVLWEP---L--VHAPLQAAAVTS-- | 618 |
| HCN4 | IIQQIVQHDREMA-----HCAHRVQAAASA>T<PTPTPVIWTP---L--IQAPLQAAAATT-- | 789 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A915V | c.2744C>T | Benign | rs199473437 | SIFT: tolerated Polyphen: benign | |
| Reports | 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 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||