No paralogue variants have been mapped to residue 885 for KCNH2.
| KCNH2 | -IP-GSP---GSTELE--------GGFSRQ>R<KRKLSFRRRTDKDT--EQ-----PGEVSAL | 908 |
| KCNH1 | -FRKISD---VKREEE--------ERMKRK>N<EAPLILPPDHPVRRLFQRF-----RQQKEA | 750 |
| KCNH3 | -SAEVDT-----SSLS------------G->-<-----D--NTLMSTLEEKE-----TDGEQG | 738 |
| KCNH4 | -TSGLSR-----FSRS--------PRLSQP>R<SESLGSSSDKTLPSITEAE-----SGAEPG | 735 |
| KCNH5 | -FRKISD---VKKEEE--------ERLRQK>N<EVTLSIPVDHPVRKLFQKF-----KQQKEL | 719 |
| KCNH6 | -GL-------HSSPRQ--------APGSQD>H<QGFFLSDNQSGSPH--ELGPQFPSKGYSLL | 762 |
| KCNH7 | -KA-DLLRSQSMNDSE--------GDNCKL>R<RRKLSFESEGEKE-------------NSTN | 908 |
| KCNH8 | -SDVISR-----LSNK--------SMVSQS>E<PKGNGN-INKRLPSIVEDE-----EEEEEG | 719 |
| CNGA1 | -ANAGSD---PKDLEE--------K---VT>R<ME--GSVDLLQTRFARILA-----EYESMQ | 652 |
| CNGA2 | -VATS-M---EVDVQE--------K---LG>Q<LE--TNMETLYTRFGRLLA-----EYTGAQ | 626 |
| CNGA3 | -ARAGAD---PKDLEE--------K---VE>Q<LG--SSLDTLQTRFARLLA-----EYNATQ | 655 |
| CNGA4 | -EAAEIA---LQEATE--------SR--LR>G<LD--QQLDDLQTKFARLLA-----ELESSA | 522 |
| CNGB1 | ---EE-K-----SVLILPPRAGTPKL--FN>A<A--LAMTGKMGGKGAKGGK-----LAHLRA | 1134 |
| CNGB3 | TPPRK-D-----LALLFPPKEETPKL--FK>T<L--LGGTGKASL-----------------A | 689 |
| HCN1 | -LQKFQ------KDLNT-------GVFNN->Q<---ENEILKQIVKHDREMV-----QAIAPI | 639 |
| HCN2 | -LHKVQ------HDLNS-------GVFNN->Q<---ENAIIQEIVKYDREMV-----QQAELG | 708 |
| HCN3 | -QRKRS------EPSPG-----------S->S<---GGIMEQHLVQHDRDMA-----RGVRGR | 588 |
| HCN4 | -LHKVQ------HDLNS-------GVFNY->Q<---ENEIIQQIVQHDREMA-----HCAHRV | 759 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R885C | c.2653C>T | Inherited Arrhythmia | LQTS | rs143512106 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | [DNA-based diagnostics of long QT syndrome]. Tidsskr Nor Laegeforen. 2005 125(20):2783-6. 16244680 | ||
| 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 | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | |||
| 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 | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | LQTS | Mutations in Genes Encoding Cardiac Ion Channels Previously Associated With Sudden Infant Death Syndrome (SIDS) Are Present With High Frequency in New Exome Data. Can J Cardiol. 2013 23465283 | |||
| Inherited Arrhythmia | LQTS | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| p.R885H | c.2654G>A | Inherited Arrhythmia | LQTS | rs202194495 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | 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 | ||
| p.R885P | c.2654G>C | Putative Benign | SIFT: Polyphen: | ||
| p.R885S | c.2653C>A | Putative Benign | SIFT: Polyphen: | ||