No paralogue variants have been mapped to residue 129 for KCNH2.
| KCNH2 | ------------PVK---NEDGAVIMFILN>F<EVVMEKDM-VG------------------- | 139 |
| KCNH1 | ------------PIR---NEQDKVVLFLCT>F<SDITAFKQ-PI------------------- | 140 |
| KCNH3 | ------------PIK---NEKGEVALFLVS>H<KDISETK-NRG------------------- | 140 |
| KCNH4 | ------------PIK---NEMGEVVLFLFS>F<KDITQSGSPGL------------------- | 141 |
| KCNH5 | ------------PIR---NEHEKVVLFLCT>F<KDITLFKQ-PI------------------- | 138 |
| KCNH6 | ------------PVK---NEDGAVIMFILN>F<EDLAQL------------------------ | 135 |
| KCNH7 | ------------PVK---NQEGVAMMFIIN>F<EYVTDNEN-AA------------------- | 139 |
| KCNH8 | ------------PIK---NEKGDVVLFLAS>F<KDITDTK-VKI------------------- | 140 |
| CNGA1 | ------------PSQREQYLPGAIALFNVN>N<SSNKDQ------------------------ | 100 |
| CNGA2 | -------------FRRIVRLVGIIREWANK>N<FREEEP------------------------ | 89 |
| CNGA3 | -------------IARLSRLIFLLRRWAAR>H<VHHQDQ------------------------ | 93 |
| CNGA4 | ------------------------------>-<----DT------------------------ | 5 |
| CNGB1 | LEMALPQPVLHGKIG---EQEPDSPGICDV>Q<TISILPGG---QVEPDLVLEEVEPPWEDAH | 317 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<-GGGGGGG-GGG------------------ | 72 |
| HCN2 | ------------------------------>-<-GAASGPA-PGP------------------ | 138 |
| HCN3 | ------------------------------>-<-TAASGPI-PKS------------------ | 40 |
| HCN4 | ------------------------------>-<-QPSVDTA-IKV------------------ | 190 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.F129I | c.385T>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| 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.Phe129Leu | c.387C>G | Unknown | SIFT: Polyphen: | ||