No paralogue variants have been mapped to residue 475 for KCNH2.
| KCNH2 | GYACQPLAVVDLIVDIMFIVDI-LINFRTT>Y<VN-ANEEVVSHPGRIAVHYFKGW-FLIDMV | 503 |
| KCNH1 | ---NVAWLVVDSIVDVIFLVDI-VLNFHTT>F<VG-PAGEVISDPKLIRMNYLKTW-FVIDLL | 301 |
| KCNH3 | SAARGPPSVCDLAVEVLFILDI-VLNFRTT>F<VS-KSGQVVFAPKSICLHYVTTW-FLLDVI | 312 |
| KCNH4 | PITSRHTLVSDIAVEMLFILDI-ILNFRTT>Y<VS-QSGQVISAPRSIGLHYLATW-FFIDLI | 314 |
| KCNH5 | ---NIAWLVLDSVVDVIFLVDI-VLNFHTT>F<VG-PGGEVISDPKLIRMNYLKTW-FVIDLL | 298 |
| KCNH6 | SYTCSPLTVVDLIVDIMFVVDI-VINFRTT>Y<VN-TNDEVVSHPRRIAVHYFKGW-FLIDMV | 351 |
| KCNH7 | GYSCSPLNVVDLIVDIMFIIDI-LINFRTT>Y<VN-QNEEVVSDPAKIAIHYFKGW-FLIDMV | 502 |
| KCNH8 | S-TTRSTTVSDIAVEILFIIDI-ILNFRTT>Y<VS-KSGQVIFEARSICIHYVTTW-FIIDLI | 308 |
| CNGA1 | -DYLEYWLILDYVSDIVYLIDM-FVRTRTG>Y<LE--QGLLVKEELKLINKYKSNLQFKLDVL | 251 |
| CNGA2 | -GYYLVWLVLDYVSDVVYIADL-FIRLRTG>F<LE--QGLLVKDTKKLRDNYIHTLQFKLDVA | 226 |
| CNGA3 | -EYLMLWLVLDYSADVLYVLDV-LVRARTG>F<LE--QGLMVSDTNRLWQHYKTTTQFKLDVL | 254 |
| CNGA4 | -GYLVAWLVLDYTSDLLYLLDM-VVRFHTG>F<LE--QGILVVDKGRISSRYVRTWSFFLDLA | 120 |
| CNGB1 | -DNIHHWLLMDYLCDLIYFLDITVFQTRLQ>F<VR--GGDIITDKKDMRNNYLKSRRFKMDLL | 743 |
| CNGB3 | -DNIHYWLIADIICDIIYLYDMLFIQPRLQ>F<VR--GGDIIVDSNELRKHYRTSTKFQLDVA | 305 |
| HCN1 | ---TTPWIIFNVASDTVFLLDL-IMNFRTG>T<VNEDSSEIILDPKVIKMNYLKSW-FVVDFI | 227 |
| HCN2 | ---TAPWIVFNVVSDTFFLMDL-VLNFRTG>I<VIEDNTEIILDPEKIKKKYLRTW-FVVDFV | 296 |
| HCN3 | ---SPPWIVFNVLSDTFFLLDL-VLNFRTG>I<VVEEGAEILLAPRAIRTRYLRTW-FLVDLI | 178 |
| HCN4 | ---TTPWIVFNVVSDTFFLIDL-VLNFRTG>I<VVEDNTEIILDPQRIKMKYLKSW-FMVDFI | 347 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Y475C | c.1424A>G | Inherited Arrhythmia | LQTS | rs199472907 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. Zhonghua Nei Ke Za Zhi. 2006 45(6):463-6. 16831322 | ||
| 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 | |||