No paralogue variants have been mapped to residue 897 for KCNH2.
| KCNH2 | TELE--------GGFSRQRKRKLSFRRRTD>K<DT--EQ-----PGEVSALGPGRAGAGPSSR | 920 |
| KCNH1 | REEE--------ERMKRKNEAPLILPPDHP>V<RRLFQRF-----RQQKEARL-AAERGGRDL | 761 |
| KCNH3 | SSLS------------G-------D--NTL>M<STLEEKE-----TDGEQG---P-TVSPAPA | 746 |
| KCNH4 | FSRS--------PRLSQPRSESLGSSSDKT>L<PSITEAE-----SGAEPGGGPRPR-RPLLL | 746 |
| KCNH5 | KEEE--------ERLRQKNEVTLSIPVDHP>V<RKLFQKF-----KQQKELRNQGSTQGDPER | 731 |
| KCNH6 | SPRQ--------APGSQDHQGFFLSDNQSG>S<PH--ELGPQFPSKGYSLLGPGSQNSMG--- | 771 |
| KCNH7 | NDSE--------GDNCKLRRRKLSFESEGE>K<E-------------NSTNDPEDSADTIRHY | 920 |
| KCNH8 | LSNK--------SMVSQSEPKGNGN-INKR>L<PSIVEDE-----EEEEEGEEEEAVSLSPIC | 731 |
| CNGA1 | DLEE--------K---VTRME--GSVDLLQ>T<RFARILA-----EYESMQQKLKQRLTKVEK | 664 |
| CNGA2 | DVQE--------K---LGQLE--TNMETLY>T<RFGRLLA-----EYTGAQQKLKQRITVLET | 638 |
| CNGA3 | DLEE--------K---VEQLG--SSLDTLQ>T<RFARLLA-----EYNATQMKMKQRLSQLES | 667 |
| CNGA4 | EATE--------SR--LRGLD--QQLDDLQ>T<KFARLLA-----ELESSALKIAYRIERLEW | 534 |
| CNGB1 | SVLILPPRAGTPKL--FNAA--LAMTGKMG>G<KGAKGGK-----LAHLRARLKELAALEAAA | 1146 |
| CNGB3 | LALLFPPKEETPKL--FKTL--LGGTGKAS>L<-----------------ARLLKLKREQAAQ | 701 |
| HCN1 | KDLNT-------GVFNN-Q---ENEILKQI>V<KHDREMV-----QAIAPINYPQMTTLNSTS | 651 |
| HCN2 | HDLNS-------GVFNN-Q---ENAIIQEI>V<KYDREMV-----QQAELGQRVGLFPPPPPP | 720 |
| HCN3 | EPSPG-----------S-S---GGIMEQHL>V<QHDRDMA-----RGVRGRAPSTGAQLSGKP | 600 |
| HCN4 | HDLNS-------GVFNY-Q---ENEIIQQI>V<QHDREMA-----HCAHRVQAAASATPTPTP | 771 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K897T | c.2690A>C | Conflict | rs1805123 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545 | ||
| Inherited Arrhythmia | LQTS | Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002 105(16):1943-8. 11997281 | |||
| Inherited Arrhythmia | LQTS | DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336 | |||
| Inherited Arrhythmia | LQTS | A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. Cardiovasc Res. 2003 59(1):27-36. 12829173 | |||
| 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 | ||||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| Putative Benign | Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693 | ||||
| Inherited Arrhythmia | LQTS | KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation. 2005 112(9):1251-8. 16116052 | |||
| Putative Benign | Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet. 2005 13(11):1213-22. 16132053 | ||||
| Inherited Arrhythmia | LQTS | Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223 | |||
| Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | ||||
| Inherited Arrhythmia | LQTS | Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839 | |||
| Inherited Arrhythmia | LQTS | A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response. PLoS One. 2007 2(12):e1258. 18060054 | |||
| Inherited Arrhythmia | AF | The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG). Eur Heart J. 2008 29(7):907-14. 18222980 | |||
| Inherited Arrhythmia | LQTS | Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. BMC Med Genet. 2008 9:87. 18808722 | |||
| Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
| p.K897N | c.2691G>C | Putative Benign | SIFT: Polyphen: | ||
| p.Lys897Met | c.2690A>T | Unknown | SIFT: Polyphen: | ||