No paralogue variants have been mapped to residue 42 for KCNH2.
| KCNH2 | QSRK-----------FIIANA-RVEN-CAV>I<-YCNDGFCELCGYSRAEVMQRPCTCDFLHG | 71 |
| KCNH1 | NDTN-----------FVLGNA-QIVD-WPI>V<-YSNDGFCKLSGYHRAEVMQKSSTCSFMYG | 72 |
| KCNH3 | THSN-----------FVLGNA-QVAGLFPV>V<-YCSDGFCDLTGFSRAEVMQRGCACSFLYG | 72 |
| KCNH4 | THSN-----------FLLANA-QGTRGFPI>V<-YCSDGFCELTGYGRTEVMQKTCSCRFLYG | 72 |
| KCNH5 | SESS-----------FLLGNA-QIVD-WPV>V<-YSNDGFCKLSGYHRADVMQKSSTCSFMYG | 70 |
| KCNH6 | QSRK-----------FLIANA-QMEN-CAI>I<-YCNDGFCELFGYSRVEVMQQPCTCDFLTG | 71 |
| KCNH7 | QNKK-----------FIIANA-RVQN-CAI>I<-YCNDGFCEMTGFSRPDVMQKPCTCDFLHG | 71 |
| KCNH8 | THSN-----------FILANA-QVAKGFPI>V<-YCSDGFCELAGFARTEVMQKSCSCKFLFG | 72 |
| CNGA1 | E------------I---------------->R<-RMEN------------------------- | 36 |
| CNGA2 | ------------------------------>-<--NHNHHA------PPA-----------IK | 25 |
| CNGA3 | -------------L---------------->K<VKTSD-----------------------RD | 24 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | AEISEMNSPSRRVLTWLMKGVEKVIP-QPV>H<-SITE----------------DPAQILGHG | 132 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | NS---------------------------->-<------------------------------ | 9 |
| HCN2 | GE---------------------------->-<------------------------------ | 12 |
| HCN3 | AA---------------------------->-<------------------------------ | 9 |
| HCN4 | EE---------------------------->-<---EDAEEEG-AGGRQDPSRRSIRLRPLPS | 55 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I42N | c.125T>A | Inherited Arrhythmia | LQTS | rs199473488 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Long QT and Brugada syndrome gene mutations in New Zealand. Heart Rhythm. 2007 4(10):1306-14. 17905336 | ||
| 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 | |||
| p.I42S | c.125T>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 | ||
| p.Ile42Thr | c.125T>C | Unknown | SIFT: Polyphen: | ||