No paralogue variants have been mapped to residue 476 for KCNH2.
| KCNH2 | YACQPLAVVDLIVDIMFIVDI-LINFRTTY>V<N-ANEEVVSHPGRIAVHYFKGW-FLIDMVA | 504 |
| KCNH1 | --NVAWLVVDSIVDVIFLVDI-VLNFHTTF>V<G-PAGEVISDPKLIRMNYLKTW-FVIDLLS | 302 |
| KCNH3 | AARGPPSVCDLAVEVLFILDI-VLNFRTTF>V<S-KSGQVVFAPKSICLHYVTTW-FLLDVIA | 313 |
| KCNH4 | ITSRHTLVSDIAVEMLFILDI-ILNFRTTY>V<S-QSGQVISAPRSIGLHYLATW-FFIDLIA | 315 |
| KCNH5 | --NIAWLVLDSVVDVIFLVDI-VLNFHTTF>V<G-PGGEVISDPKLIRMNYLKTW-FVIDLLS | 299 |
| KCNH6 | YTCSPLTVVDLIVDIMFVVDI-VINFRTTY>V<N-TNDEVVSHPRRIAVHYFKGW-FLIDMVA | 352 |
| KCNH7 | YSCSPLNVVDLIVDIMFIIDI-LINFRTTY>V<N-QNEEVVSDPAKIAIHYFKGW-FLIDMVA | 503 |
| KCNH8 | -TTRSTTVSDIAVEILFIIDI-ILNFRTTY>V<S-KSGQVIFEARSICIHYVTTW-FIIDLIA | 309 |
| CNGA1 | DYLEYWLILDYVSDIVYLIDM-FVRTRTGY>L<E--QGLLVKEELKLINKYKSNLQFKLDVLS | 252 |
| CNGA2 | GYYLVWLVLDYVSDVVYIADL-FIRLRTGF>L<E--QGLLVKDTKKLRDNYIHTLQFKLDVAS | 227 |
| CNGA3 | EYLMLWLVLDYSADVLYVLDV-LVRARTGF>L<E--QGLMVSDTNRLWQHYKTTTQFKLDVLS | 255 |
| CNGA4 | GYLVAWLVLDYTSDLLYLLDM-VVRFHTGF>L<E--QGILVVDKGRISSRYVRTWSFFLDLAS | 121 |
| CNGB1 | DNIHHWLLMDYLCDLIYFLDITVFQTRLQF>V<R--GGDIITDKKDMRNNYLKSRRFKMDLLS | 744 |
| CNGB3 | DNIHYWLIADIICDIIYLYDMLFIQPRLQF>V<R--GGDIIVDSNELRKHYRTSTKFQLDVAS | 306 |
| HCN1 | --TTPWIIFNVASDTVFLLDL-IMNFRTGT>V<NEDSSEIILDPKVIKMNYLKSW-FVVDFIS | 228 |
| HCN2 | --TAPWIVFNVVSDTFFLMDL-VLNFRTGI>V<IEDNTEIILDPEKIKKKYLRTW-FVVDFVS | 297 |
| HCN3 | --SPPWIVFNVLSDTFFLLDL-VLNFRTGI>V<VEEGAEILLAPRAIRTRYLRTW-FLVDLIS | 179 |
| HCN4 | --TTPWIVFNVVSDTFFLIDL-VLNFRTGI>V<VEDNTEIILDPQRIKMKYLKSW-FMVDFIS | 348 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V476I | c.1426G>A | Inherited Arrhythmia | LQTS | rs199472908 | SIFT: deleterious Polyphen: possibly damaging |
| 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 | ||