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 |