No paralogue variants have been mapped to residue 913 for KCNH2.
| KCNH2 | SFRRRTDKDT--EQ-----PGEVSALGPGR>A<GAGPSSRGRPGG---P--WGESPSSGPSS- | 937 |
| KCNH1 | ILPPDHPVRRLFQRF-----RQQKEARL-A>A<ERGGRDLDDLDV---E--KGNVLTEHASA- | 778 |
| KCNH3 | -D--NTLMSTLEEKE-----TDGEQG---P>-<TVSPAPADEPSS---P--LLSPGCTSSSSA | 764 |
| KCNH4 | GSSSDKTLPSITEAE-----SGAEPGGGPR>P<R-RPLLLPNLSP---A--RPR--GSLVSLL | 762 |
| KCNH5 | SIPVDHPVRKLFQKF-----KQQKELRNQG>S<TQGDPERNQLQV---E--SRSLQNGASIT- | 748 |
| KCNH6 | LSDNQSGSPH--ELGPQFPSKGYSLLGPGS>Q<NSMG------AG---P--CAPG-HPDAAP- | 784 |
| KCNH7 | SFESEGEKE-------------NSTNDPED>S<ADTIRHYQSSKR---H--FEEKKSRSSSF- | 937 |
| KCNH8 | GN-INKRLPSIVEDE-----EEEEEGEEEE>A<VSLSPICTRGSS---S--RNKKVGSNKAYL | 749 |
| CNGA1 | GSVDLLQTRFARILA-----EYESMQQKLK>Q<RLTKVEKFLKP-----LIDTEFSSIEGPG- | 681 |
| CNGA2 | TNMETLYTRFGRLLA-----EYTGAQQKLK>Q<RITVLETKMKQ-----NNEDDYLSDGMNS- | 655 |
| CNGA3 | SSLDTLQTRFARLLA-----EYNATQMKMK>Q<RLSQLESQVKG-----GG-DKPLADGEVPG | 684 |
| CNGA4 | QQLDDLQTKFARLLA-----ELESSALKIA>Y<RIERLEWQTREW---PMPEDLAEADDEGE- | 553 |
| CNGB1 | AMTGKMGGKGAKGGK-----LAHLRARLKE>L<AALEAAAKQQEL---V--EQAKSSQDVKGE | 1164 |
| CNGB3 | GGTGKASL-----------------ARLLK>L<KREQAAQKKENSEGGE--EEGKENEDKQKE | 722 |
| HCN1 | NEILKQIVKHDREMV-----QAIAPINYPQ>M<TTLNSTSSTTTP---T--SRMRTQSPPVYT | 669 |
| HCN2 | NAIIQEIVKYDREMV-----QQAELGQRVG>L<FPPPPPPPQVTS---A--IATLQQAAAMSF | 738 |
| HCN3 | GIMEQHLVQHDRDMA-----RGVRGRAPST>G<AQLSGKPVLWEP---L--VHAPLQAAAVTS | 618 |
| HCN4 | NEIIQQIVQHDREMA-----HCAHRVQAAA>S<ATPTPTPVIWTP---L--IQAPLQAAAATT | 789 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A913V | c.2738C>T | Inherited Arrhythmia | LQTS | rs77331749 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | |||
| Unknown | Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006 114(20):2104-12. 17060380 | ||||
| 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 | |||
| Inherited Arrhythmia | LQTS | Polygenic Case of Long QT Syndrome Confirmed through Functional Characterization Informs the Interpretation of Genetic Screening Results. HeartRhythm Case Rep. 2015 1(4):201-205. 26213684 | |||