No paralogue variants have been mapped to residue 41 for KCNH2.
| KCNH2 | GQSRK-----------FIIANA-RVEN-CA>V<I-YCNDGFCELCGYSRAEVMQRPCTCDFLH | 70 |
| KCNH1 | -NDTN-----------FVLGNA-QIVD-WP>I<V-YSNDGFCKLSGYHRAEVMQKSSTCSFMY | 71 |
| KCNH3 | GTHSN-----------FVLGNA-QVAGLFP>V<V-YCSDGFCDLTGFSRAEVMQRGCACSFLY | 71 |
| KCNH4 | GTHSN-----------FLLANA-QGTRGFP>I<V-YCSDGFCELTGYGRTEVMQKTCSCRFLY | 71 |
| KCNH5 | -SESS-----------FLLGNA-QIVD-WP>V<V-YSNDGFCKLSGYHRADVMQKSSTCSFMY | 69 |
| KCNH6 | GQSRK-----------FLIANA-QMEN-CA>I<I-YCNDGFCELFGYSRVEVMQQPCTCDFLT | 70 |
| KCNH7 | GQNKK-----------FIIANA-RVQN-CA>I<I-YCNDGFCEMTGFSRPDVMQKPCTCDFLH | 70 |
| KCNH8 | GTHSN-----------FILANA-QVAKGFP>I<V-YCSDGFCELAGFARTEVMQKSCSCKFLF | 71 |
| CNGA1 | KE------------I--------------->-<R-RMEN------------------------ | 36 |
| CNGA2 | ------------------------------>-<---NHNHHA------PPA-----------I | 24 |
| CNGA3 | H-------------L--------------->-<KVKTSD-----------------------R | 23 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | GAEISEMNSPSRRVLTWLMKGVEKVIP-QP>V<H-SITE----------------DPAQILGH | 131 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | PNS--------------------------->-<------------------------------ | 9 |
| HCN2 | PGE--------------------------->-<------------------------------ | 12 |
| HCN3 | PAA--------------------------->-<------------------------------ | 9 |
| HCN4 | DEE--------------------------->-<----EDAEEEG-AGGRQDPSRRSIRLRPLP | 54 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V41A | c.122T>C | Inherited Arrhythmia | LQTS | rs731506 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445 | ||
| p.V41F | c.121G>T | Inherited Arrhythmia | LQTS | rs199472835 | SIFT: deleterious Polyphen: benign |
| Reports | 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 | 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.V41G | c.122T>G | Putative Benign | rs731506 | SIFT: deleterious Polyphen: benign | |